Cytopenia - NOT Fanconi anaemia
Gene: DIAPH1
DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
1 review
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia and sensorineural hearing loss; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no commnt submitted; London South GLH: The thrombocytopenia seen in this condition is often asymptomatic.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Macrothrombocytopenia and hearing loss
- Deafness, autosomal dominant 1, 124900
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Cerebral vascular malformations
- Severe microcephaly
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Mitochondrial disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Monogenic hearing loss
- Inherited bleeding disorders
History Filter Activity
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to DIAPH1.
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to DIAPH1.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Macrothrombocytopenia and hearing loss; Deafness, autosomal dominant 1, 124900 for gene: DIAPH1
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: DIAPH1 was added gene: DIAPH1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: DIAPH1 was set to