Microcephaly
Gene: DIAPH1EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels
1 review
Dean Phelan (Victorian Clinical Genetics Services)
PMID: 24781755 (2015) - five individuals from a consanguineous family with severe microcephaly >2SD below the mean for age with homozygous nonsense variant in DIAPH1
PMID: 26463574 (2016) - two different homozygous LOF variants identified in two unrelated consanguineous families. The affected individuals were diagnosed with postnatal microcephaly (>2SD), early-onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections.
Sources: Expert ReviewCreated: 2 Sep 2020, 6:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, cortical blindness, microcephaly syndrome 616632
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Seizures, cortical blindness, microcephaly syndrome 616632
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: diaph1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: diaph1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dean Phelan (Victorian Clinical Genetics Services)gene: DIAPH1 was added gene: DIAPH1 was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIAPH1 were set to PMID: 24781755; 26463574 Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome 616632 Review for gene: DIAPH1 was set to GREEN