Genomics England
GMS Panels
Panels
Genes and Entities

MCCC1

methylcrotonoyl-CoA carboxylase 1
OMIM: 609010
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200, 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200