PRMT7

protein arginine methyltransferase 7
OMIM: 610087, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PRMT7 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157

Green PRMT7 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 1.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PRMT7 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157

Green PRMT7 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157

Green PRMT7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Other
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157

Green PRMT7 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157

Green PRMT7 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157