Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR.

Latest updates

DD panel

• 2024-12-06 Gene: RAB1A Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity
• 2024-12-06 Gene: PLAAT3 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: PLAAT3-related lipodystrophy syndrome with neurological features
• 2024-12-04 Gene: CCT8 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT8-related neurodevelopmental disorder with brain abnormalities
• 2024-12-04 Gene: CCT7 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT7-related neurodevelopmental disorder with brain abnormalities
• 2024-12-04 Gene: CCT5 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT5-related neurodevelopmental disorder with brain abnormalities
• 2024-12-04 Gene: CCT4 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT4-related neurodevelopmental disorder with brain abnormalities
• 2024-12-04 Gene: CCT6A Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT6A-related neurodevelopmental disorder with or without brain abnormalities
• 2024-12-04 Gene: CCT3 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: CCT3-related neurodevelopmental disorder with hypomyelination of white matter
• 2024-12-04 Gene: TCP1 Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: TCP1-related neurodevelopmental disorder with polymicrogyria
• 2024-11-22 Gene: AFF3 Genotype: monoallelic_autosomal Mutation consequence: decreased gene product level Disease: AFF3-related intellectual disability

Eye panel

• 2024-09-23 Gene: RHO Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: RHO-related retinitis pigmentosa
• 2024-05-15 Gene: AGPAT3 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: AGPAT3-related intellectual disability and retinitis pigmentosa
• 2022-03-17 Gene: GNPTG Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: GNPTG-related MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
• 2021-01-12 Gene: BFSP1 Genotype: monoallelic_autosomal Mutation consequence: uncertain Disease: BFSP1-related Cataract 33, multiple types (monoallelic, uncertain)
• 2021-01-12 Gene: PRPH2 Genotype: mitochondrial Mutation consequence: altered gene product structure Disease: PRPH2-related Retinitis pigmentosa 7 (digenic, all missense/in frame)
• 2021-01-12 Gene: BFSP2 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: BFSP2-related cataract
• 2021-01-12 Gene: EMC1 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: EMC1-related Cerebellar atrophy, visual impairment, and psychomotor retardation (monoallelic, dominant negative)
• 2021-01-12 Gene: NEK1 Genotype: mitochondrial Mutation consequence: absent gene product Disease: NEK1-related SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (digenic, loss of function)
• 2021-01-12 Gene: COL2A1 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: COL2A1-related SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (biallelic, all missense/in frame)
• 2021-01-12 Gene: CDH23 Genotype: mitochondrial Mutation consequence: absent gene product Disease: CDH23-related Usher syndrome, type 1D (digenic, loss of function)

Skin panel

• 2021-01-12 Gene: FAS Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: FAS-related Autoimmune lymphoproliferative syndrome type IA (biallelic, dominant negative)
• 2021-01-12 Gene: EDNRB Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: EDNRB-related Waardenburg syndrome type IV (biallelic, loss of function)
• 2021-01-12 Gene: EDN3 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: EDN3-related Waardenburg syndrome type IV (biallelic, loss of function)
• 2021-01-12 Gene: FAS Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: FAS-related Autoimmune lymphoproliferative syndrome type IA (mosaic, dominant negative)
• 2020-07-16 Gene: EFEMP2 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: EFEMP2-related CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
• 2019-09-16 Gene: COL7A1 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: COL7A1-related Epidermolysis Bullosa Pruriginosa
• 2019-09-16 Gene: COL17A1 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: COL17A1-related Epidermolysis Bullosa Junctional (atrophic benign)
• 2019-09-16 Gene: ITGB4 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: ITGB4-related Epidermolysis Bullosa Junctional
• 2019-09-16 Gene: MPLKIP Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: MPLKIP-related Trichothiodystrophy, non photosensitive
• 2019-09-16 Gene: LMNA Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: LMNA-related Restrictive dermopathy, lethal

Cancer panel

• 2024-06-13 Gene: NPAT Genotype: monoallelic_autosomal Mutation consequence: decreased gene product level Disease: NPAT-related cancer
• 2024-04-11 Gene: CHEK2 Genotype: biallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: CHEK2-related cancer predisposition
• 2023-09-06 Gene: MAP3K1 Genotype: monoallelic_autosomal Mutation consequence: absent gene product Disease: MAP3K1-related Breast cancer, susceptibility to
• 2023-09-06 Gene: LZTR1 Genotype: monoallelic_autosomal Mutation consequence: uncertain Disease: LZTR1-related Breast cancer, susceptibility to
• 2023-09-06 Gene: ATRIP Genotype: monoallelic_autosomal Mutation consequence: absent gene product Disease: ATRIP-related Breast cancer, susceptibility to
• 2023-02-23 Gene: ARHGAP36 Genotype: monoallelic_X_het Mutation consequence: altered gene product structure Disease: ARHGAP36-related Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome
• 2023-02-23 Gene: POLR2A Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: POLR2A-related Predisposition to ependymoma
• 2023-02-23 Gene: KDM1A Genotype: monoallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: KDM1A-related GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome
• 2023-02-22 Gene: MBD4 Genotype: biallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: MBD4 multi-tumour predisposition syndrome
• 2023-02-22 Gene: PTPN13 Genotype: biallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: PTPN13 related predisposition to bone marrow failure

Skeletal panel

• 2024-09-04 Gene: PLS3 Genotype: monoallelic_X_hem Mutation consequence: absent gene product,altered gene product structure,decreased gene product level Disease: PLS3-related osteoporosis with fractures
• 2024-03-22 Gene: ERI1 Genotype: biallelic_autosomal Mutation consequence: decreased gene product level Disease: ERI1-related brachydactyly and mild neurodevelopmental delay
• 2024-03-22 Gene: ERI1 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: ERI1-related severe growth restriction and skeletal dysplasia
• 2024-03-22 Gene: PRRX1 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: PRRX1-related craniosynostosis
• 2023-12-21 Gene: MYH3 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: MYH3-related Recessive Spondylocarpotarsal Synostosis Syndrome
• 2023-12-20 Gene: POP1 Genotype: biallelic_autosomal Mutation consequence: decreased gene product level Disease: POP1-related Anauxetic Dysplasia
• 2023-05-24 Gene: KIF22 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: KIF22-related SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
• 2023-05-24 Gene: EIF2AK3 Genotype: biallelic_autosomal Mutation consequence: absent gene product Disease: EIF2AK3-related WOLCOTT-RALLISON SYNDROME
• 2023-05-24 Gene: SLC39A13 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: SLC39A13-related EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA
• 2023-05-24 Gene: GPC3 Genotype: monoallelic_X_hem Mutation consequence: absent gene product Disease: GPC3-related SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1

Cardiac panel

• 2024-04-05 Gene: KCNE1 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure Disease: KCNE1-related JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
• 2024-03-26 Gene: TTR Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: TTR-related hereditary ATTR amyloidosis
• 2024-03-20 Gene: SCN5A Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: SCN5A-related DCM
• 2024-03-20 Gene: DSP Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure,increased gene product level Disease: DSP-related DCM
• 2023-05-17 Gene: BAG3 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: BAG3-related Myofibrillar myopathy
• 2023-05-17 Gene: MYO6 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: MYO6-related nonsyndromic genetic hearing loss with LVH
• 2023-05-17 Gene: SLC25A4 Genotype: biallelic_autosomal Mutation consequence: absent gene product,altered gene product structure Disease: SLC25A4-related Mitochondrial disease
• 2023-05-17 Gene: ABCC9 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure Disease: ABCC9-related Cantu Syndrome
• 2023-05-17 Gene: FXN Genotype: biallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: FXN-related Friedreich ataxia
• 2023-05-17 Gene: GAA Genotype: biallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: GAA-related Pompe disease

Hearing loss panel

• 2024-11-28 Gene: MYO6 Genotype: monoallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: MYO6-related nonsyndromic genetic hearing loss
• 2024-11-28 Gene: MYO6 Genotype: biallelic_autosomal Mutation consequence: altered gene product structure,decreased gene product level Disease: MYO6-related nonsyndromic genetic hearing loss