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Severe microcephaly v1.62 | TRMT1 | Louise Daugherty reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.62 | TRMT10A | Louise Daugherty reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.61 | TRMT1 | Louise Daugherty Source NHS GMS was added to TRMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.61 | TRMT10A | Louise Daugherty Source NHS GMS was added to TRMT10A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.48 | TRMT1 |
Rebecca Foulger gene: TRMT1 was added gene: TRMT1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to 30289604 Phenotypes for gene: TRMT1 were set to Non‐syndromal congenital microcephaly Review for gene: TRMT1 was set to RED Added comment: Added TRMT1 to the microcephaly panel based on PMID:30289604 (Blaesius et al., 2018) who report 4 patients from 2 unrelated consanguineous Pakistani families with homozygous variants in TRMT1 and intellectual disability. Non‐syndromal microcephaly was diagnosed at birth in three of the patients (V:2 from Family 1 (OFC -4.9 SD), and III.3 (OFC -4.1 SD) and III.4 (OFC -4 SD) from Family 2). The authors note that the clinical features are reminiscent of autosomal recessive primary microcephaly (MCPH). Rated as Red awaiting further cases. Sources: Literature |
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Severe microcephaly | TRMT10A | Rebecca Foulger classified TRMT10A as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | TRMT10A | Rebecca Foulger commented on TRMT10A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | TRMT10A | Rebecca Foulger commented on TRMT10A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | TRMT10A | Rebecca Foulger commented on TRMT10A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | TRMT10A | Rebecca Foulger commented on TRMT10A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | TRMT10A | Rebecca Foulger commented on TRMT10A |