ZSWIM6:Ensemblv115

zinc finger SWIM-type containing 6
OMIM: 615951, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green ZSWIM6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis - MIM#603671

Green ZSWIM6 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
  • NEDMAGA

Green ZSWIM6 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865

Amber ZSWIM6 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865

Green ZSWIM6 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis, MIM# 603671

Amber ZSWIM6 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865

Green ZSWIM6 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green ZSWIM6 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green ZSWIM6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis MIM#603671
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865

Green ZSWIM6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis 603671

Red ZSWIM6 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
  • Acromelic frontonasal dysostosis (603671)

Green ZSWIM6 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • AFND
  • ACROMELIC FRONTONASAL DYSOSTOSIS