Early onset or syndromic epilepsy
Gene: ARFGEF2
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
AR periventricular heterotropia with microcephaly. Sheen et al, 2004 - hom mutations detected in affected members of two Turkish families. Banne et al, 2013 - 5 members of a consang Palestinian family with a hom variant. No functional studies. Also a couple of cases with hom variants who also have cardiomyopathy.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
Periventricular heterotopia with microcephaly, 608097
Publications
Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)Created: 17 Jul 2018, 9:44 a.m.
Associated with periventricular heterotopia in OMIM, and epilepsy is part of the phenotypeCreated: 5 Jul 2018, 2:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly 608097
Source Wessex and West Midlands GLH was added to ARFGEF2.
Source NHS GMS was added to ARFGEF2.
Arianna Tucci: Associated with periventricula
Gene: arfgef2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ARFGEF2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly 608097
Mode of inheritance for gene: ARFGEF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: arfgef2 has been classified as Green List (High Evidence).
Expert Review Amber was added to ARFGEF2. Panel: Genetic Epilepsy Syndromes
ARFGEF2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ARFGEF2 was created by Sarah Leigh