Genomics England

WDR62

WD repeat domain 62

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, Cortical Malformations, and Mental Retardation, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317, MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION (MCMMR)
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MCPH, primary microcephaly, Primary Microcephaly 2 With or Without Cortical Malformations, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317, microcephaly cortical malformations and mental retardation (MCMMR), 604317, Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations