SF1

splicing factor 1
OMIM: 601516, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

No list SF1 in Mendeliome


Version 1.3382

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SF1-related

No list SF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.359

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SF1-related