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Arthrogryposis

Gene: ADCY6

Amber List (moderate evidence)

ADCY6 (adenylate cyclase 6)
EnsemblGeneIds (GRCh38): ENSG00000174233
EnsemblGeneIds (GRCh37): ENSG00000174233
OMIM: 600294, Gene2Phenotype
ADCY6 is in 1 panel

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). At least 4 individuals from 3 unrelated families with distal AMC and distinct variants in the ADCY6 gene.
Created: 3 Dec 2020, 10:33 a.m. | Last Modified: 3 Dec 2020, 10:33 a.m.
Panel Version: 3.24

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Created: 4 Jun 2020, 8:57 a.m. | Last Modified: 4 Jun 2020, 8:57 a.m.
Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 8, OMIM # 616287

Publications

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in 2 siblings
Created: 5 Jan 2017, 11:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 8 616287

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM:616287
  • Lethal congenital contracture syndrome 8, MONDO:0014570
Tags
for-review
OMIM
600294
Clinvar variants
Variants in ADCY6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

3 Dec 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ADCY6 were set to 24319099

3 Dec 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ADCY6.

3 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: adcy6 has been classified as Amber List (Moderate Evidence).

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

ADCY6 was added to Arthrogryposispanel. Sources: Literature

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

ADCY6 was created by agardham