Arthrogryposis
Gene: ADCY6Comment 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
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
Only reported in 2 siblingsCreated: 5 Jan 2017, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 8 616287
Publications
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
Publications for gene: ADCY6 were set to 24319099
Tag for-review tag was added to gene: ADCY6.
Gene: adcy6 has been classified as Amber List (Moderate Evidence).
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.
This gene has been classified as Red List (Low Evidence).
ADCY6 was added to Arthrogryposispanel. Sources: Literature
ADCY6 was created by agardham