WDR62

WD repeat domain 62
OMIM: 613583, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red WDR62 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.15 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Cerebral Malformation Disorders
Green WDR62 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green WDR62 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Other Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green WDR62 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Green WDR62 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
Amber WDR62 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green WDR62 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green WDR62 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317