Severe microcephaly
Gene: KMT2B
At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia.
Microcephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating at the next GMS panel update.
Sources: LiteratureCreated: 5 Dec 2023, 5:12 p.m. | Last Modified: 5 Dec 2023, 5:13 p.m.
Panel Version: 4.46
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
Publications
Tag Q3_23_promote_green was removed from gene: KMT2B. Tag Q4_23_promote_green tag was added to gene: KMT2B.
Gene: kmt2b has been classified as Amber List (Moderate Evidence).
gene: KMT2B was added gene: KMT2B was added to Severe microcephaly. Sources: Literature Q3_23_promote_green tags were added to gene: KMT2B. Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27839873; 27839873; 33150406 Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 Review for gene: KMT2B was set to GREEN