Genomics England

tubulin folding cofactor D

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Early-Onset Neurodegenerative Encephalopathy
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646