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  3. SUZ12
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Fetal anomalies

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. Overgrowth of prenatal onset, brain abnormalities reported in some.
Created: 29 Feb 2020, 6:20 a.m. | Last Modified: 23 Feb 2022, 10:17 p.m.
Panel Version: 0.4106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 29 Feb 2020, 6:20 a.m.
Last Modified: 23 Feb 2022, 10:17 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2267

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

Created: 10 Dec 2019, 11:17 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1175

Details

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

History Filter Activity

23 Feb 2022, 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).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUZ12 were changed from Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786 to Imagawa-Matsumoto syndrome #618786

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SUZ12 were set to 30019515; 28229514

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SUZ12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUZ12 was added gene: SUZ12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 30019515; 28229514 Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786