Mitochondrial disorders
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
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases for each phenotype.Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632
Publications
Details
- Sources
-
- Expert list
- Phenotypes
-
- Deafness, autosomal dominant 1 124900
- Seizures, cortical blindness, microcephaly syndrome 616632
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Fetal anomalies
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Monogenic hearing loss
- Bleeding and platelet disorders
- Intellectual disability
- Severe microcephaly
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
History Filter Activity
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DIAPH1 were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: DIAPH1 was added gene: DIAPH1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to