Pituitary hormone deficiency
Gene: ZSWIM6
ZSWIM6 (zinc finger SWIM-type containing 6)
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000130449
EnsemblGeneIds (GRCh37): ENSG00000130449
OMIM: 615951, Gene2Phenotype
ZSWIM6 is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
- Acromelic frontonasal dysostosis (603671)
- OMIM
- 615951
- Clinvar variants
- Variants in ZSWIM6
- Penetrance
- None
- 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
13 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: ZSWIM6 was added gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865); Acromelic frontonasal dysostosis (603671)