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| Cutaneous photosensitivity with a likely genetic cause v1.10 | ANAPC1 |
Catherine Snow Tag for-review was removed from gene: ANAPC1. Tag Q4_21_NHS_review was removed from gene: ANAPC1. |
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| Cutaneous photosensitivity with a likely genetic cause v1.10 | ANAPC1 | Catherine Snow commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Agree. There is an intronic variant which will be outside the targeted region of exomes which has been identified in multiple patients (c.2705-198C-T, NM_022662.3). This gene will also provide difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome).""Green - mutations in ANAPC1 cause RTS type 1 (e.g. Ajeawung et al. AJHG 2019)" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.10 | ANAPC1 | Catherine Snow commented on gene: ANAPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.9 | ANAPC1 |
Catherine Snow Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cutaneous photosensitivity with a likely genetic cause v1.8 | ANAPC1 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.8 | ANAPC1 | Tom Cullup reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.7 | ANAPC1 | Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.7 | ANAPC1 | Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.6 | ANAPC1 |
Ivone Leong gene: ANAPC1 was added gene: ANAPC1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review for-review tags were added to gene: ANAPC1. Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Review for gene: ANAPC1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). This gene was suggested to be added to this panel as Amber by the Genomics England Clinical Team. The publication did not mention any affected individuals having photosensitivity; however, as it is a mimic of RECQL4, this gene may be appropriate for this panel. This gene has been tagged with "for-review" so that the GMS specialist group could review this gene for whether it is appropriate for this panel or not. Sources: Expert Review |
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