Inherited bleeding disorders
Gene: SLFN14
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: added recent publications to support phenotypeCreated: 9 Aug 2017, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SLFN14-related thrombocytopenia
Publications for SLFN14 were set to 26280575;27438527;26769223
Phenotypes for SLFN14 were set to SLFN14-related thrombocytopenia;Platelet disorder; Bleeding Disorder, platelet-type, 20
Revised 19 December 2016
This proposed gene was validated and added to this panel
SLFN14 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
SLFN14 was added to Inherited bleeding disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
SLFN14 was created by BRIDGE