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Skeletal dysplasia

Gene: ZSWIM6

Green List (high evidence)
ZSWIM6 (zinc finger SWIM-type containing 6)
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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
Sources: Other
Created: 15 Nov 2019, 2:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acromelic frontonasal dysostosis 603671

Publications

Created: 15 Nov 2019, 2:38 p.m.

Panel version: 1.211

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Acromelic frontonasal dysostosis 603671
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: zswim6 has been classified as Green List (High Evidence).

15 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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