Inherited bleeding disorders

Gene: SLFN14

Green List (high evidence)

SLFN14 (schlafen family member 14)
EnsemblGeneIds (GRCh38): ENSG00000236320
EnsemblGeneIds (GRCh37): ENSG00000236320
OMIM: 614958, Gene2Phenotype
SLFN14 is in 3 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

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

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

Louise Daugherty (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • SLFN14-related thrombocytopenia
  • Platelet disorder
  • Bleeding Disorder, platelet-type, 20
OMIM
614958
Clinvar variants
Variants in SLFN14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLFN14 were set to 26280575;27438527;26769223

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLFN14 were set to SLFN14-related thrombocytopenia;Platelet disorder; Bleeding Disorder, platelet-type, 20

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SLFN14 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

19 Dec 2016, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SLFN14 was added to Inherited bleeding disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)

19 Dec 2016, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SLFN14 was created by BRIDGE