Genomics England
GMS Panels
Panels
Genes and Entities

MCCC2

methylcrotonoyl-CoA carboxylase 2
OMIM: 609014
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210
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
3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210