Genomics England
GMS Panels
Panels
Genes and Entities

HLCS

holocarboxylase synthetase
OMIM: 609018
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, 253270, HOLOCARBOXYLASE SYNTHETASE 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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency, 253270, lactic acidosis with seizures and eczema, immune deficiency, Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, 253270
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holocarboxylase synthetase deficiency, 253270