IBMDx study
Gene: DIAPH1
DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least four unrelated families reported.
Sources: Expert listCreated: 11 Aug 2020, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Expert list
- Phenotypes
-
- Macrothrombocytopenia and sensorineural hearing loss
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Combined Immunodeficiency
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Microcephaly
- Mendeliome
- IBMDx study
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DIAPH1 was added gene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: DIAPH1 was set to Unknown Phenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss