This Panel is marked as Retired
Epileptic encephalopathy
Gene: DIAPH1
DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: 3 unrelated cases supporting causation of 'Seizures, cortical blindness, microcephaly syndrome' (SCBMS, MIM:616632).Created: 3 Mar 2017, 1:51 p.m.
Case 3: R1049X in 3 siblings with MIM:616632 (PMID:26463574, Al-Maawali et al. 2016).Created: 3 Mar 2017, 1:50 p.m.
Case 2: 1-BP DEL, 2769T in a boy with MIM:616632 (PMID:26463574, Al-Maawali et al. 2016).Created: 3 Mar 2017, 1:49 p.m.
Case 1:Q778X in 5 siblings with 'Seizures, cortical blindness, microcephaly syndrome, MIM:616632. (PMID:24781755, Ercan-Sencicek et al. 2015).Created: 3 Mar 2017, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Seizures, cortical blindness, microcephaly syndrome, MIM:616632
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Monogenic hearing loss
- Intellectual disability
- Bleeding and platelet disorders
- Early onset or syndromic epilepsy
- Severe microcephaly
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- Cerebral vascular malformations
History Filter Activity
3 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
3 Mar 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)DIAPH1 was added to Epileptic encephalopathypanel. Sources: Other
3 Mar 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)DIAPH1 was created by rfoulger