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| Severe microcephaly v5.5 | KMT2B | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KMT2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.5 | KMT2B |
Arina Puzriakova Source Expert Review Green was added to KMT2B. Source NHS GMS was added to KMT2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v5.4 | KMT2B | Arina Puzriakova commented on gene: KMT2B: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.46 | KMT2B |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: KMT2B. Tag Q4_23_promote_green tag was added to gene: KMT2B. |
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| Severe microcephaly v4.46 | KMT2B |
Arina Puzriakova changed review comment from: 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. Sources: Literature; to: 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: Literature |
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| Severe microcephaly v4.46 | KMT2B | Arina Puzriakova Classified gene: KMT2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.46 | KMT2B | Arina Puzriakova Gene: kmt2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.45 | KMT2B |
Arina Puzriakova 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 Added comment: 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. Sources: Literature |
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