SMC6

structural maintenance of chromosomes 6
OMIM: 609387, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SMC6 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMC6-related

Amber SMC6 in Mendeliome


Version 2.516

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMC6-related

Amber SMC6 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMC6-related

Amber SMC6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.125

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMC6-related

Amber SMC6 in Growth failure


Version 2.21

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SMC6-related