Early onset or syndromic epilepsy
Gene: UNC80
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 infantile hypotonia with psychomotor retardation and characteristic facies. Some patients may have seizures which can be controlled.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
Hypotonia infantile with psychomotor retardation and characteristic facies 2, 616801
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 5 unrelated cases of Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 with seizures.Created: 4 Sep 2018, 4:08 p.m.
Seizures are part of the phenotype of this neurodevelopmental disorder.Created: 22 Aug 2018, 8:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM#616801
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: UNC80 were set to 26545877; 26708753; 26708751
Phenotypes for gene: UNC80 were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Source Wessex and West Midlands GLH was added to UNC80.
Source NHS GMS was added to UNC80.
Zornitza Stark: Seizures are part of the pheno
Gene: unc80 has been classified as Green List (High Evidence).
Gene: unc80 has been classified as Green List (High Evidence).
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801
Publications for gene: UNC80 were set to 26545877; 26708753; 26708751
Mode of inheritance for gene: UNC80 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to UNC80. Panel: Genetic Epilepsy Syndromes
UNC80 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
UNC80 was created by Sarah Leigh