Fetal anomalies
Gene: ADCY6

ADCY6 (adenylate cyclase 6)
EnsemblGeneIds (GRCh38): ENSG00000174233
EnsemblGeneIds (GRCh37): ENSG00000174233
OMIM: 600294, Gene2Phenotype
ADCY6 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.

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.
Sources: Expert list, Literature
Created: 8 Nov 2021, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 8 - #616287

Publications

24319099, 26257172, 31846058
33820833

Created: 8 Nov 2021, 2:52 a.m.

Panel version: 0.158

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Expert list

Phenotypes

Lethal congenital contracture syndrome 8, MIM#616287
MONDO:0014570

OMIM

600294

Clinvar variants

Variants in ADCY6

Penetrance

None

Publications

Panels with this gene