Microcephaly
Gene: DIAPH1
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
Gene: diaph1 has been classified as Green List (High Evidence).
Gene: diaph1 has been classified as Green List (High Evidence).
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