Holoprosencephaly - NOT chromosomal
Gene: KMT2DThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:45 p.m. | Last Modified: 14 Mar 2022, 1:45 p.m.
Panel Version: 2.27
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed in the absence of overtly obvious features of Kabuki syndrome. Sufficient to rate this gene as Green at the next GMS panel update.Created: 14 Sep 2021, 3:02 p.m. | Last Modified: 14 Sep 2021, 3:02 p.m.
Panel Version: 2.20
Three case reports of HPE in Kabuki syndrome. Association also observed by us internally, PMID 32773771, supplementary info.
Sources: LiteratureCreated: 5 Oct 2020, 10:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, MIM# 147920
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: KMT2D.
Source Expert Review Green was added to KMT2D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: KMT2D.
Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, OMIM:147920
gene: KMT2D was added gene: KMT2D was added to Holoprosencephaly. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31846209; 31282990; 32773771 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic