Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: SUZ12Comment 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
More than 10 unrelated individuals reported, overgrowth is a key feature of this syndrome.
Sources: Expert listCreated: 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
Gene: suz12 has been classified as Green List (High Evidence).
Phenotypes for gene: SUZ12 were changed from Imagawa-Matsumoto syndrome, MIM# 618786 to Imagawa-Matsumoto syndrome 618786
Publications for gene: SUZ12 were set to 31736240; 28229514
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