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Genetic Epilepsy

Gene: GLRA2

Green List (high evidence)

GLRA2 (glycine receptor alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000101958
EnsemblGeneIds (GRCh37): ENSG00000101958
OMIM: 305990, Gene2Phenotype
GLRA2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 35294868 reports eight GLRA2 variants in affected females (n=8) and males (n=5). The variants in the females were de novo and c.887C>T,
p.Thr296Met (NC_000023.10, chrX: g.14627284C>T) was present in six individuals (PMID: 35294868, table 2) and was found to have a gain-of-function effect, which is in contrast to c.754C>T, p.Arg252Cys and c.407A>G, p.Asn136Ser (PMID: 2637014). All of the 13 GLRA2 variant carriers in PMID: 35294868 had developmental delay/intellectual disability and epilepsy was evident in 7/13 of the cases (PMID: 35294868, table 2). Supportive functional studies were also presented.
Sources: Expert Review
Created: 24 Aug 2023, 6:31 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
OMIM
305990
Clinvar variants
Variants in GLRA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glra2 has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glra2 has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLRA2 was added gene: GLRA2 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLRA2 were set to 35294868 Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Review for gene: GLRA2 was set to GREEN