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Epileptic encephalopathy

Gene: DIAPH1

Green List (high evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 7 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

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