Severe microcephaly
Gene: DIAPH1EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Amber to Red based on advice from Adrianna Tucci: 3 unrelated human cases.Created: 2 Mar 2017, 3:52 p.m.
Comment on list classification: Updated rating from Red to Amber: 3 separate cases of DIAPH1 mutations causing microcephaly, but reported mouse models don't exhibit microcephaly.Created: 17 Jan 2017, 1:46 p.m.
3 cases reported in OMIM of DIAPH1 mutations linked to Seizures, cortical blindness, microcephaly syndrome (SCBMS, OMIM:616632) all from consanguineous Arab or Saudi Arabian parents. Note that mouse models don't exhibit microcephaly.Created: 16 Jan 2017, 1:48 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- microcephaly, blindness and early onset seizures
- severe visual impairment, intellectual disability, and short stature
- Seizures, cortical blindness, microcephaly syndrome, 616632
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- Complete
- Publications
-
- PMID: 24781755 - a family study identify a homozygous nonsense alteration as the cause of microcephaly (MCP), severe visual impairment, intellectual disability, and short stature
- PMID: 26463574 - describes a case of an affected boy from United Arab Emirates, and a seperate family with 3 affected siblings of Omani ancestry, and identify likely causative homozygous variants in this gene in the individuals affected with microcephaly, blindness and early onset seizures.
- Panels with this gene
-
- Intellectual disability
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Bleeding and platelet disorders
- Fetal anomalies
- Monogenic hearing loss
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Severe microcephaly
- Cerebral vascular malformations
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DIAPH1.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene DIAPH1 were set to microcephaly, blindness and early onset seizures; severe visual impairment, intellectual disability, and short stature; Seizures, cortical blindness, microcephaly syndrome, 616632
Added New Source
Ellen McDonagh (Genomics England Curator)DIAPH1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)DIAPH1 was created by ellenmcdonagh