PHC1

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red PHC1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.82 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Other Literature Phenotypes Autosomal recessive primary microcephaly (MCPH) ?Microcephaly 11, primary, autosomal recessive, 615414 MCPH primary microcephaly
Red PHC1 in DDG2P Version 3.88 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 Red Phenotypes PRIMARY MICROCEPHALY 615414
Red PHC1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 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 Expert Review Red Phenotypes Microcephaly 11, primary, autosomal recessive, 615414 MCPH11 Intellectural disability Tags watchlist