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Fetal anomalies

Gene: ADGRG6

Green List (high evidence)

ADGRG6 (adhesion G protein-coupled receptor G6)
EnsemblGeneIds (GRCh38): ENSG00000112414
EnsemblGeneIds (GRCh37): ENSG00000112414
OMIM: 612243, Gene2Phenotype
ADGRG6 is in 5 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three other families reported but with severe prenatal onset arthrogryposis.
Created: 30 Mar 2020, 6:17 a.m. | Last Modified: 28 Oct 2021, 8:45 p.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9; OMIM #616503

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Ravenscroft 2015: 3 consanguineous families reported (1x missense, 1x nonsense, 1x frameshift). Functional studies performed on missense variant identified in Family 3 - the homozygous missense was identified in 2 sibs, parents heterozygous carriers. All variants absent in gnomAD.
Created: 29 Mar 2020, 3:22 a.m. | Last Modified: 29 Mar 2020, 3:22 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9 (MIM#616503)

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Sources: Literature
Created: 11 Dec 2019, 11:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9; OMIM #616503

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 9, OMIM #616503
OMIM
612243
Clinvar variants
Variants in ADGRG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9; OMIM #616503 to Lethal congenital contracture syndrome 9, OMIM #616503

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrg6 has been classified as Green List (High Evidence).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRG6 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 9 to Lethal congenital contracture syndrome 9; OMIM #616503

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADGRG6 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRG6 was added gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9