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Genetic epilepsy syndromes

Gene: DIAPH1

Green List (high evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 9 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD deafness 1 & AR seizures, cortical blindness, microcephaly syndrome (SCBMS) - characterised by microcephaly and early-onset seizures . Ercan-Sencicek et al, 2015 - Saudi family - 5 aff sibs - hom truncating mutation identified in all. Al-Maawali et al, 2016 - 4 patients from 2 unrelated consang Arab families - 2 diff hom truncating mutations identified.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness 1,124900; Seizures, cortical blindness, microcephaly syndrome,616632

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • Expert Review Green
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, MIM:616632
OMIM
602121
Clinvar variants
Variants in DIAPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DIAPH1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DIAPH1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Rebecca Foulger: Case 1:Q778X in 5 siblings wit

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DIAPH1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

DIAPH1 was created by Sarah Leigh