Arthrogryposis

Gene: ADGRG6

Green List (high evidence)

Ravenscroft 2015: 3 consanguineous families reported (1x missense, 1x nonsense, 1x frameshift). Functional studies performed on missense variant identified in Family 3 - the homozygous missense was identified in 2 sibs, parents heterozygous carriers. All variants absent in gnomAD.

Created: 29 Mar 2020, 3:22 a.m. | Last Modified: 29 Mar 2020, 3:22 a.m.

Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9 (MIM#616503)

Publications

• 26004201

Green List (high evidence)

Comment when marking as ready: Gene previously known as GPR126. Three unrelated families with severe perinatal arthrogryposis.

Created: 30 Mar 2020, 6:12 a.m. | Last Modified: 14 Jun 2021, 6:18 a.m.

Panel Version: 0.277

1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.

Created: 12 Dec 2019, 6:12 a.m. | Last Modified: 12 Dec 2019, 6:12 a.m.

Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 9; OMIM #616503; MONDO:0014670

Publications

• 30549416