Genomics England

lamin B1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179
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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500