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  3. ADGRG6
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Hereditary neuropathy or pain disorder

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ADGRG6 variants have been associated with Lethal congenital contracture syndrome 9, OMIM:616503 and as definitive G2P gene for the same condition. At least three variants have been reported in three consanguineous families, where the parents were heterozygous for the causative variant. Supportive functional studies were also presented (PMID: 26004201).
Created: 22 Oct 2024, 10:11 a.m. | Last Modified: 22 Oct 2024, 10:11 a.m.
Panel Version: 5.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Oct 2024, 10:11 a.m.
Last Modified: 22 Oct 2024, 10:11 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

4 individuals, 3 unrelated families, absence of myelinated axons on post mortem
Sources: Expert list
Created: 10 Oct 2024, 3:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lethal congenital contracture syndrome; lack of peripheral myelination

Publications

Created: 10 Oct 2024, 3:35 p.m.

Panel version: 5.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lethal congenital contracture syndrome 9, OMIM:616503
  • lethal congenital contracture syndrome 9, MONDO:0014670
OMIM
612243
Clinvar variants
Variants in ADGRG6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ADGRG6. Tag Q3_24_NHS_review was removed from gene: ADGRG6.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to ADGRG6. Source Expert Review Green was added to ADGRG6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Oct 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ADGRG6. Tag Q3_24_NHS_review tag was added to gene: ADGRG6.

22 Oct 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9, OMIM:616503 to Lethal congenital contracture syndrome 9, OMIM:616503; lethal congenital contracture syndrome 9, MONDO:0014670

22 Oct 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADGRG6 were changed from lethal congenital contracture syndrome; lack of peripheral myelination to Lethal congenital contracture syndrome 9, OMIM:616503

22 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adgrg6 has been classified as Amber List (Moderate Evidence).

10 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: ADGRG6 was added gene: ADGRG6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG6 were set to 26004201 Phenotypes for gene: ADGRG6 were set to lethal congenital contracture syndrome; lack of peripheral myelination Penetrance for gene: ADGRG6 were set to Complete Review for gene: ADGRG6 was set to GREEN