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Intellectual disability syndromic and non-syndromic

Gene: SUZ12

Green List (high evidence)

SUZ12 (SUZ12 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000178691
EnsemblGeneIds (GRCh37): ENSG00000178691
OMIM: 606245, Gene2Phenotype
SUZ12 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thirteen individuals from 12 families.
Created: 29 Feb 2020, 6:20 a.m. | Last Modified: 29 Feb 2020, 6:20 a.m.
Panel Version: 0.2267

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Imagawa-Matsumoto syndrome, MIM# 618786; Intellectual disability; Overgrowth

Publications

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert list
Created: 10 Dec 2019, 11:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786
  • Intellectual disability
  • Overgrowth
OMIM
606245
Clinvar variants
Variants in SUZ12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUZ12 were changed from no OMIM number yet. to Imagawa-Matsumoto syndrome, MIM# 618786; Intellectual disability; Overgrowth

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: suz12 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: suz12 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: SUZ12 was added gene: SUZ12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUZ12 were set to PMID: 31736240; 30019515; 28229514 Phenotypes for gene: SUZ12 were set to no OMIM number yet. Review for gene: SUZ12 was set to GREEN