gene2phenotype

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Gene: PRMT7 Disease: PRMT7-related Pseudohypoparathyroidism-like disorder

Allelic requirement: biallelic_autosomal
Mutation consequence summary: absent gene product

Variant consequence: loss_of_function_variant

Panel	Confidence category
DD	definitive

Gene: PRMT7

Location

Synonyms
OMIM MIM: 610087
Ensembl stable ID: ENSG00000132600
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

Look up PRMT7 in PanelApp

Disease: Pseudohypoparathyroidism-like disorder

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Publications

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. (Nat Genet. 47: 1363-1369, 2015.)

Phenotypes

Look up phenotypes associated with PRMT7 in DECIPHER