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Fetal anomalies v1.836 | PITX1 | Arina Puzriakova Tag for-review was removed from gene: PITX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PITX1 | Arina Puzriakova commented on gene: PITX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | PITX1 |
Arina Puzriakova Source Expert Review Green was added to PITX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.491 | PITX1 | Arina Puzriakova Phenotypes for gene: PITX1 were changed from CONGENITAL CLUBFOOT; HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.490 | PITX1 | Arina Puzriakova Classified gene: PITX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.490 | PITX1 | Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.490 | PITX1 | Arina Puzriakova Gene: pitx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.489 | PITX1 | Arina Puzriakova Tag for-review tag was added to gene: PITX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.205 | PITX1 | Rhiannon Mellis reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PITX1 | Rebecca Foulger commented on gene: PITX1: DDG2P rating in original PAGE list: Probable for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS and Probable for CONGENITAL CLUBFOOT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PITX1 | Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX1 | Rebecca Foulger Added phenotypes CONGENITAL CLUBFOOT for gene: PITX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX1 |
Rebecca Foulger gene: PITX1 was added gene: PITX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS |