Activity
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| Fetal anomalies v5.78 | KMT2B |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KMT2B. Tag Q1_25_ promote_green was removed from gene: KMT2B. |
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| Fetal anomalies v5.78 | KMT2B | Achchuthan Shanmugasundram edited their review of gene: KMT2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | KMT2B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | KMT2B |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KMT2B. Tag Q1_25_ promote_green tag was added to gene: KMT2B. |
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| Fetal anomalies v5.16 | KMT2B | Achchuthan Shanmugasundram commented on gene: KMT2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | KMT2B | Natalie Bibb reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 33150406, 29697234; Phenotypes: Intellectual developmental disorder, autosomal dominant 68, MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | KMT2B |
Achchuthan Shanmugasundram Source NHS GMS was added to KMT2B. Mode of inheritance for gene KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 for gene: KMT2B Publications for gene: KMT2B were updated from to 29276005; 29697234; 33150406 |
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| Fetal anomalies v3.122 | KMT2B | Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KMT2B | Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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