Inherited bleeding disorders

Gene: SLFN14

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, Only gives a bleeding platelet disorder if missense in ATPase domain 218, 219 and 220 AND also GOF also observed in the NIHRBR-RD BRIDGE cohort.

Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Platelet disorder; Bleeding Disorder, platelet-type, 20

Publications

• 26280575

Variants in this GENE are reported as part of current diagnostic practice

Comment on publications: added recent publications to support phenotype

Created: 9 Aug 2017, 1:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SLFN14-related thrombocytopenia