Cytopenias and congenital anaemias
Gene: SBDS
Comment when marking as ready: Sufficient evidence for causation. A common conversion event is reported as causative in the majorityCreated: 28 Feb 2017, 2:04 p.m.
From above PMID: "A pseudogene copy (SBDSP) with 97% nucleotide sequence identity resides in a locally duplicated genomic segment of 305 kb. We found recurring mutations resulting from gene conversion in 89% of unrelated individuals with SDS (141 of 158), with 60% (95 of 158) carrying two converted alleles."Created: 20 Feb 2017, 12:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400
Publications
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for SBDS were set to Shwachman-Diamond syndrome 260400
Publications for SBDS were set to 12496757; 14749921
This gene has been classified as Green List (High Evidence).
SBDS was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
SBDS was created by LouiseD