SF3B1

splicing factor 3b subunit 1
OMIM: 605590, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SF3B1 in Mendeliome


Version 1.4216

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038, SF3B1-related

Green SF3B1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038, SF3B1-related

Red SF3B1 in Red cell disorders


Level 2: Haematological disorders
Version 1.43

1 review Other
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Myelodysplastic syndrome, somatic MIM# 614286
Tags
  • somatic