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| Cutaneous photosensitivity with a likely genetic cause v3.5 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Cutaneous photosensitivity with a likely genetic cause v0.4 | RECQL4 | Rebecca Foulger Classified gene: RECQL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.4 | RECQL4 | Rebecca Foulger Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.3 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 10319867; 10678659; 11102924; 11471165 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400 Added comment: Added RECQL4 gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses Rothmund Thompson syndrome as an example condition for Clinical Indication R237. Sources: Other |
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