Segmental overgrowth disorders - Deep sequencing
Gene: SUZ12The 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
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: LiteratureCreated: 7 Sep 2020, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Imagawa-Matsumoto syndrome 618786
Publications
Tag for-review was removed from gene: SUZ12.
Source Expert Review Green was added to SUZ12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: suz12 has been classified as Amber List (Moderate Evidence).
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