Genomics England
GMS Panels
Panels
Genes and Entities

ZSWIM6

zinc finger SWIM-type containing 6
OMIM: 615951
PanelMode of inheritanceDetails
9 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROMELIC FRONTONASAL DYSOSTOSIS, AFND
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROMELIC FRONTONASAL DYSOSTOSIS 603671
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROMELIC FRONTONASAL DYSOSTOSIS
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acromelic frontonasal dysostosis, 603671, Includes mental retardation, acromelic frontonasal dysostosis with severe intellectual disability
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acromelic frontonasal dysostosis 603671
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromelic frontonasal dysostosis 603671
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromelic frontonasal dysostosis 603671
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromelic frontonasal dysostosis 603671