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Hereditary neuropathy or pain disorder

Gene: ADCY6

Green List (high evidence)
ADCY6 (adenylate cyclase 6)
EnsemblGeneIds (GRCh38): ENSG00000174233
EnsemblGeneIds (GRCh37): ENSG00000174233
OMIM: 600294, Gene2Phenotype
ADCY6 is in 3 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
ADCY6 variant have been associated with Lethal congenital contracture syndrome 8 (OMIM:616287). At least four variants have been reported in three unrelated cases, segregation was reported in two of these cases (PMID: 31846058; 26257172; 24319099). PMID: 24319099 reported that a knockdown ADCY6 zebrafish resulted in a similar phenotype.
Created: 22 Oct 2024, 9:31 a.m. | Last Modified: 22 Oct 2024, 9:31 a.m.
Panel Version: 5.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Oct 2024, 9:31 a.m.
Last Modified: 22 Oct 2024, 9:31 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Expert list
Created: 10 Oct 2024, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lethal congenital contracture syndrome; loss of axons

Publications

Created: 10 Oct 2024, 3:32 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 8, OMIM:616287
  • lethal congenital contracture syndrome 8, MONDO:0014570
OMIM
600294
Clinvar variants
Variants in ADCY6
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: ADCY6. Tag Q3_24_NHS_review was removed from gene: ADCY6.

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 ADCY6. Source Expert Review Green was added to ADCY6. 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: ADCY6. Tag Q3_24_NHS_review tag was added to gene: ADCY6.

22 Oct 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099

22 Oct 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM:616287 to Lethal congenital contracture syndrome 8, OMIM:616287; lethal congenital contracture syndrome 8, MONDO:0014570

22 Oct 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADCY6 were changed from lethal congenital contracture syndrome; loss of axons to Lethal congenital contracture syndrome 8, OMIM:616287

22 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adcy6 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: ADCY6 was added gene: ADCY6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099 Phenotypes for gene: ADCY6 were set to lethal congenital contracture syndrome; loss of axons Penetrance for gene: ADCY6 were set to Complete Review for gene: ADCY6 was set to GREEN