Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: ADCY6

Red List (low evidence)

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

2 reviews

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 Red
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8 616287
OMIM
600294
Clinvar variants
Variants in ADCY6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Created

Alice Gardham (Genomics England)

ADCY6 was created by agardham

5 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

ADCY6 was added to Arthrogryposispanel. Sources: Literature