SRRM2:Ensemblv115

serine/arginine repetitive matrix 2
OMIM: 606032, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SRRM2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 72, MIM# 620439

Green SRRM2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 72, MIM# 620439