Early onset or syndromic epilepsy

Gene: DIAPH1

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

• 26463574
• 24781755

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

• 24781755
• 26463574