UFC1

ubiquitin-fold modifier conjugating enzyme 1
OMIM: 610554, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green UFC1 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 microcephaly
Red UFC1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes Severe early-onset encephalopathy with progressive microcephaly
Green UFC1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe early-onset encephalopathy with progressive microcephaly
Amber UFC1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Literature Phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076
Amber UFC1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Expert Review Literature Phenotypes global developmental delay with progressive microcephaly Neurodevelopmental disorder with spasticity and poor growth, 618076 Tags watchlist