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| Ectodermal dysplasia v1.35 | SNRPE |
Arina Puzriakova Tag Q2_21_rating was removed from gene: SNRPE. Tag Q2_21_NHS_review was removed from gene: SNRPE. |
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| Ectodermal dysplasia v1.35 | SNRPE | Arina Puzriakova commented on gene: SNRPE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.34 | SNRPE |
Arina Puzriakova Source Expert Review Green was added to SNRPE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v1.23 | SNRPE |
Arina Puzriakova changed review comment from: Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged); to: Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged) Pan et al. 2021 (PMID: 33792916) also recently reported on 3 further unrelated patients with hypotrichosis who were found to harbour two novel heterozygous variants (c.54+2T>A and c.221T>C), and one previously reported variant (c.1A>G), in SNRPE |
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| Ectodermal dysplasia v1.23 | SNRPE | Arina Puzriakova Publications for gene: SNRPE were set to 23246290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.22 | SNRPE | Arina Puzriakova Phenotypes for gene: SNRPE were changed from Hypotrichosis 11, 615059; HYPT11 to Hypotrichosis 11, OMIM:615059 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.21 | SNRPE |
Arina Puzriakova Tag Q2_21_rating tag was added to gene: SNRPE. Tag Q2_21_NHS_review tag was added to gene: SNRPE. |
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| Ectodermal dysplasia v1.21 | SNRPE | Arina Puzriakova Classified gene: SNRPE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.21 | SNRPE | Arina Puzriakova Added comment: Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.21 | SNRPE | Arina Puzriakova Gene: snrpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.19 | SNRPE | Gavin Ryan reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.3 | SNRPE |
Ellen McDonagh gene: SNRPE was added gene: SNRPE was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNRPE were set to 23246290 Phenotypes for gene: SNRPE were set to Hypotrichosis 11, 615059; HYPT11 |
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