Genomics England

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 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317