Genomics England

microcephalin 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY PRIMARY TYPE 1 251200
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY PRIMARY TYPE 1
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200, MICROCEPHALY PRIMARY TYPE 1 (MCPH1)
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 1, primary, autosomal recessive, 251200, Microcephaly 1, Primary, Autosomal Recessive