1. Panels
  2. Angelman Rett like syndromes
  3. GABBR2
STRs in panel
Prev Next
Regions in panel
Prev Next

Angelman Rett like syndromes

Gene: GABBR2

Green List (high evidence)
GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136928
EnsemblGeneIds (GRCh37): ENSG00000136928
OMIM: 607340, Gene2Phenotype
GABBR2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome.

At least 5 unrelated individuals reported.
Sources: Expert list
Created: 14 Nov 2020, 2:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903

Publications

Created: 14 Nov 2020, 2:55 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903
OMIM
607340
Clinvar variants
Variants in GABBR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr2 has been classified as Green List (High Evidence).

14 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabbr2 has been classified as Green List (High Evidence).

14 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABBR2 was added gene: GABBR2 was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR2 were set to 28856709; 26740508; 29369404 Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903 Review for gene: GABBR2 was set to GREEN