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Segmental overgrowth disorders - Deep sequencing

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

Catherine Snow (Genomics England)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "forms of Cohen-Gibson syndrome"
Created: 14 Mar 2022, 6:34 p.m. | Last Modified: 14 Mar 2022, 6:34 p.m.
Panel Version: 2.16
Created: 14 Mar 2022, 6:34 p.m.
Last Modified: 14 Mar 2022, 6:34 p.m.
Panel version: 2.16

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 13 affected individuals from 12 families.
Sources: Literature
Created: 7 Sep 2020, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Imagawa-Matsumoto syndrome 618786

Publications

Created: 7 Sep 2020, 4:30 p.m.

Panel version: 2.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Imagawa-Matsumoto syndrome 618786
OMIM
606245
Clinvar variants
Variants in SUZ12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag for-review was removed from gene: SUZ12.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to SUZ12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: suz12 has been classified as Amber List (Moderate Evidence).

7 Sep 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SUZ12 was added gene: SUZ12 was added to Segmental overgrowth disorders. Sources: Literature for-review tags were added to gene: SUZ12. Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 28229514; 30019515; 31736240; 15385962; 19535498; 31724824 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome 618786 Review for gene: SUZ12 was set to GREEN