Genomics England

ubiquitin fold modifier 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe early-onset encephalopathy with progressive microcephaly,
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy hypomyelinating 14, 617899
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 global developmental delay with progressive microcephaly, Leukodystrophy hypomyelinating 14, 617899, Leukodystrophy, hypomyelinating, 14, 617899
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 14, 617899, microcephaly
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 14, OMIM:617899