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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported originally with severe prenatal-onset arthrogryposis (PMID: 26004201), one family with more complex neurological phenotype (PMID:30549416).
Created: 30 Mar 2020, 6:15 a.m. | Last Modified: 30 Mar 2020, 6:15 a.m.
Panel Version: 0.1842
Comment when marking as ready: 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.
Created: 12 Dec 2019, 6:15 a.m. | Last Modified: 12 Dec 2019, 6:15 a.m.
Panel Version: 0.278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9, MIM #616503; MONDO:0014670

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

30 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADGRG6 were set to 30549416

30 Mar 2020, 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).

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrg6 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADGRG6 were set to

12 Dec 2019, Gel status: 1

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ADGRG6 was changed from to None

12 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrg6 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRG6 was added gene: ADGRG6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADGRG6 was set to Unknown