Panel: DD Gene: ADNP Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28

ADNP

Gene symbol
ADNP
OMIM MIM
Ensembl stable ID
ENSG00000101126
Synonyms
Location

Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
monoallelic
Mutation consequence summary
loss of function

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biallelic
digenic
digenic (biallelic)
digenic (tetra-allelic)
digenic (triallelic)
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (X; hemizygous)
monoallelic (X; heterozygous)
monoallelic (Y)
monoallelic (autosome)
monoallelic (autosome; obligate mosaic)
mosaic
mtDNA (heteroplasmic)
mtDNA (homoplasmic)
uncertain
x-linked dominant
x-linked over-dominance

Publications

Phenotypes

Organ specificity

  • Brain/Cognition

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Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

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Variants

The following variants are retrieved from Ensembl. We only select variants that have been annotated as pathogenic by ClinVar. For each of the variants we display the most severe consequence. If there are multiple transcripts producing the consequence, we choose the canonical transcript, otherwise we select the transcript randomly.

Location Variant name Variant source Alleles REF/ALT Most severe consequence Transcript ID Amino acid change PolyPhen prediction SIFT prediction
20:49509094 rs587777526 dbSNP G/A/C stop_gained ENST00000396029 Y - -
20:49509094 rs587777526 dbSNP G/A/C stop_gained ENST00000396029 Y/* - -
20:49510040 rs587777524 dbSNP G/A/C/T stop_gained ENST00000396029 S/L benign tolerated
20:49510040 rs587777524 dbSNP G/A/C/T stop_gained ENST00000396029 S/* - -
20:49510040 rs587777524 dbSNP G/A/C/T stop_gained ENST00000396029 S/W possibly damaging deleterious