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Intellectual disability syndromic and non-syndromic

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)

More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model.
Sources: Expert list
Created: 20 Apr 2022, 9:34 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 list
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

20 Apr 2022, 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).

20 Apr 2022, 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).

20 Apr 2022, 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 Intellectual disability syndromic and non-syndromic. Sources: Expert list 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 26370147; 20479760; 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