Skeletal dysplasiaGene: ZSWIM6
Comment on list classification: This cililiopathy gene has been added to the skeletal dysplasia panel after consultation with the Genomics England clinical team. There is sufficient skeletal involvement to include on this panel.
Created: 15 Nov 2019, 2:40 p.m. | Last Modified: 15 Nov 2019, 2:40 p.m.
Panel Version: 1.212
Associated 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) only
Created: 15 Nov 2019, 2:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Acromelic frontonasal dysostosis 603671
Gene: zswim6 has been classified as Green List (High Evidence).
gene: ZSWIM6 was added gene: ZSWIM6 was added to Skeletal dysplasia. Sources: Other 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 Review for gene: ZSWIM6 was set to GREEN