SMC5:Ensemblv90

structural maintenance of chromosomes 5
OMIM: 609386, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SMC5 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Growth failure


Version 1.87

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Atelis syndrome 2, MIM# 620185

Green SMC5 in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Atelis syndrome 2, MIM# 620185