Bleeding and Platelet Disorders
Gene: SLFN14EnsemblGeneIds (GRCh38): ENSG00000236320
EnsemblGeneIds (GRCh37): ENSG00000236320
OMIM: 614958, Gene2Phenotype
SLFN14 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least four unrelated families reported.
Sources: Expert listCreated: 16 Aug 2020, 5:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bleeding disorder, platelet-type, 20, MIM# 616913
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bleeding disorder, platelet-type, 20, MIM# 616913
- OMIM
- 614958
- Clinvar variants
- Variants in SLFN14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slfn14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slfn14 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLFN14 was added gene: SLFN14 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLFN14 were set to 26280575; 26769223 Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913 Review for gene: SLFN14 was set to GREEN