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| Fetal anomalies v6.105 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.105 | PTBP1 |
Arina Puzriakova changed review comment from: 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.; to: 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). Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two. |
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| Fetal anomalies v6.105 | PTBP1 | Arina Puzriakova Tag Q3_25_NHS_review was removed from gene: PTBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.105 | PTBP1 | Arina Puzriakova Entity copied from Skeletal dysplasia v8.20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.105 | PTBP1 |
Arina Puzriakova gene: PTBP1 was added gene: PTBP1 was added to Fetal anomalies. Sources: Literature,Expert Review Amber,NHS GMS Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PTBP1. Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTBP1 were set to 40965981 Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder, MONDO:0700092 Penetrance for gene: PTBP1 were set to unknown |
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