1. Panels
  2. Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
  3. SUZ12
STRs in panel
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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: 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.
Created: 7 Sep 2020, 4:09 p.m. | Last Modified: 7 Sep 2020, 4:09 p.m.
Panel Version: 1.97
Created: 7 Sep 2020, 4:09 p.m.
Last Modified: 7 Sep 2020, 4:09 p.m.
Panel version: 1.97

Zornitza Stark (Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported, overgrowth is a key feature of this syndrome.
Sources: Expert list
Created: 4 Jul 2020, 11:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Imagawa-Matsumoto syndrome, MIM# 618786

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2020, 11:16 a.m.

Panel version: 1.94

Details

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

History Filter Activity

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

7 Sep 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SUZ12 were changed from Imagawa-Matsumoto syndrome, MIM# 618786 to Imagawa-Matsumoto syndrome 618786

7 Sep 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SUZ12 were set to 31736240; 28229514

4 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SUZ12 was added gene: SUZ12 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. 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 31736240; 28229514 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome, MIM# 618786 Review for gene: SUZ12 was set to GREEN gene: SUZ12 was marked as current diagnostic