Skeletal Dysplasia_Fetal
Gene: ZSWIM6EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 15 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
AFND has multiple skeletal features amenable to prenatal diagnosis including preaxial polydactyly, mesomelic shortening and lower limb malformations. Prenatal diagnosis on the basis of skeletal features and other anomalies has been reported in the published literature (PMID: 33776626).
Sources: LiteratureCreated: 19 Sep 2022, 6:01 a.m. | Last Modified: 19 Sep 2022, 7:19 a.m.
Panel Version: 0.91
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromelic frontonasal dysostosis - MIM#603671
Publications
- PMID: 33776626
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Acromelic frontonasal dysostosis - MIM#603671
- OMIM
- 615951
- Clinvar variants
- Variants in ZSWIM6
- Penetrance
- None
- Publications
-
- PMID: 33776626
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zswim6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: ZSWIM6 was added gene: ZSWIM6 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to PMID: 33776626 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis - MIM#603671 Review for gene: ZSWIM6 was set to GREEN