Inherited bleeding disorders
Gene: DIAPH1EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia and sensorineural hearing loss
Publications
BRIDGE consortium (NIHRBR-RD)
Only gives a BPD if having a Gain of function variant PMID:26912466Created: 19 Dec 2016, 11:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia and sensorineural hearing loss
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Macrothrombocytopenia and sensorineural hearing loss
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- Complete
- Panels with this gene
-
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Monogenic hearing loss
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Severe microcephaly
- Cerebral vascular malformations
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for DIAPH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)DIAPH1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)DIAPH1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DIAPH1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene