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  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. ADGRG6
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Multiple pterygium syndrome_Fetal akinesia sequence

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)

At least 3 unrelated families reported with severe perinatal phenotype. Gene previously known as GPR126.
Sources: Expert Review
Created: 14 Jun 2021, 6:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 14 Jun 2021, 6:16 a.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 9, MIM# 616503
  • MONDO:0014670
OMIM
612243
Clinvar variants
Variants in ADGRG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jun 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).

14 Jun 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).

14 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRG6 was added gene: ADGRG6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG6 were set to 26004201; 33820833 Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9, MIM# 616503; MONDO:0014670 Review for gene: ADGRG6 was set to GREEN