Genomics England
GMS Panels
Panels
Genes and Entities

DYM

dymeclin
OMIM: 607461
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
DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800, SMITH-MCCORT DYSPLASIA 607326
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMITH-MCCORT DYSPLASIA, DYGGVE-MELCHIOR-CLAUSEN SYNDROME
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
Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326, SMITH-MCCORT DYSPLASIA (SMC)
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
Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388, Dyggve-Melchior-Clausen disease, 223800, Smith-McCort dysplasia, 607326
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyggve-Melchior-Clausen disease 223800, Smith-McCort dysplasia 607326