Activity
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13 actions
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| Skeletal dysplasia v8.44 | PTBP1 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 10th Apr 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.44 | PTBP1 | Ida Ertmanska Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092; STAD syndrome, OMIM:621495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.37 | PTBP1 |
Eleanor Williams Tag Q3_25_promote_green was removed from gene: PTBP1. Tag Q3_25_NHS_review was removed from gene: PTBP1. |
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| Skeletal dysplasia v8.37 | PTBP1 | Eleanor Williams reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.36 | PTBP1 |
Eleanor Williams Source Expert Review Green was added to PTBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v8.20 | PTBP1 | Arina Puzriakova edited their review of gene: PTBP1: Changed rating: GREEN; Changed publications to: 40965981; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.20 | PTBP1 | Arina Puzriakova Classified gene: PTBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.20 | PTBP1 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others). Skeletal anomalies were seen in 24 (89%), with the most prominent abnormalities comprising shortening and dysplasia of long bones and phalanges. Radiographic features included brachymetacarpia, brachymetatarsia, brachydactyly, brachytelephalangy, brachymesophalangy, and rhizomelia. Advanced bone maturation, cone-shaped epiphyses, and other features such as vertebral dysplasia were also observed. |
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| Skeletal dysplasia v8.20 | PTBP1 | Arina Puzriakova Gene: ptbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.19 | PTBP1 | Arina Puzriakova Phenotypes for gene: PTBP1 were changed from to Neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.18 | PTBP1 | Arina Puzriakova Publications for gene: PTBP1 were set to PMID:40965981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.17 | PTBP1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PTBP1. Tag Q3_25_NHS_review tag was added to gene: PTBP1. |
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| Skeletal dysplasia v8.17 | PTBP1 |
Ronnie Wright gene: PTBP1 was added gene: PTBP1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTBP1 were set to PMID:40965981 Penetrance for gene: PTBP1 were set to unknown Review for gene: PTBP1 was set to GREEN Added comment: One publication (PMID: 40965981). 27 individuals from 25 families, predominantly with start loss variants (recurring de novo). 'Affected individuals presented with a syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. Intellectual functioning ranged from normal to moderately delayed' 'Additional clinical features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%)' For the start loss variants, re-initiation of translation at p.Met31 is shown to be occurring by authors, and leads to reduced nuclear localization, enhanced cytoplasmic retention and increased protein stability. Authors showed a recognizable methylation episignature. Cases in CVA (incl 1 North West GLH), at least some of which share syndromic phenotypic features consistent with the literature report. Sources: NHS GMS, Literature |
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