WDR62:Ensemblv115

WD repeat domain 62
OMIM: 613583, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green WDR62 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435

Red WDR62 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317

Green WDR62 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435

Green WDR62 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435

Green WDR62 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435

Green WDR62 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Amber WDR62 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Primary ovarian insufficiency

Green WDR62 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317

Green WDR62 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317