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Microcephaly

Gene: DIAPH1

Green List (high evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

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 Review
Created: 2 Sep 2020, 6:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, cortical blindness, microcephaly syndrome 616632

Publications

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Sep 2020, Gel status: 0

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