Joubert syndrome and other neurological ciliopathies
Gene: ZSWIM6EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Not entirely clear at this stage whether this is a ciliopathy.Created: 20 May 2020, 10:47 a.m. | Last Modified: 20 May 2020, 10:47 a.m.
Panel Version: 0.72
Crystle Lee (Victorian Clinical Genetics Services)
There are some phenotypic overlap, primarily skeletal abnormalities.
PMID: 25105228: 4 pts with AFND (Arg1163Trp)
PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy"
PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative.
Sources: Expert ReviewCreated: 20 May 2020, 1:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acromelic frontonasal dysostosis (MIM#603671)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Acromelic frontonasal dysostosis (MIM#603671)
- Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
- OMIM
- 615951
- Clinvar variants
- Variants in ZSWIM6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Polydactyly
- Clefting disorders
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Pierre Robin Sequence
- Frontonasal dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Mendeliome
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: ZSWIM6 was added gene: ZSWIM6 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671) Review for gene: ZSWIM6 was set to AMBER