Skeletal ciliopathies
Gene: ZSWIM6Associated with Acromelic frontonasal dysostosis #603671 (AD) and Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features #617865 (AD) in OMIM.
Acromelic frontonasal dysostosis - OMIM lists the skeletal phenotypes of Patellar hypoplasia or aplasia (in some patients), Tibial hypoplasia, polydactyly of hands and feet, Talipes equinovarus.
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features - OMIM lists the skeletal phenotype of Foot deformities (in some patients) onlyCreated: 14 Nov 2019, 2:22 p.m. | Last Modified: 14 Nov 2019, 2:22 p.m.
Panel Version: 0.15
Tags added: single variant reported.Created: 15 Mar 2017, 2:31 p.m.
Comment on mode of pathogenicity: Thought to be activating mutationsCreated: 25 Jan 2017, 4:50 p.m.
Comment on list classification: Differential diagnosis of ciliopathyCreated: 25 Jan 2017, 4:50 p.m.
Mutations identified in four patients
Probable DD on G2P
Activating mutationsCreated: 25 Jan 2017, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromelic frontonasal dysostosis 603671
Publications
Mode of pathogenicity
Other
gene: ZSWIM6 was added gene: ZSWIM6 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to 25105228 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671 Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments