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  3. ZSWIM6
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Pituitary hormone deficiency

Gene: ZSWIM6

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Acromelic frontonasal dysostosis (603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
OMIM
615951
Clinvar variants
Variants in ZSWIM6
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

7 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ZSWIM6 was added gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)