Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: SETD2Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 3:18 p.m. | Last Modified: 16 Apr 2021, 3:18 p.m.
Panel Version: 1.105
Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures
Sources: Expert listCreated: 4 Jul 2020, 11:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Luscan-Lumish syndrome, MIM#616831
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: setd2 has been classified as Green List (High Evidence).
Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, 616831 to Luscan-Lumish syndrome, OMIM:616831
Publications for gene: SETD2 were set to 29681085
Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, 616831
gene: SETD2 was added gene: SETD2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD2 were set to 29681085 Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome, MIM#616831 Review for gene: SETD2 was set to GREEN gene: SETD2 was marked as current diagnostic