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| Cytopenia - NOT Fanconi anaemia v3.34 | LIG4 | Arina Puzriakova Phenotypes for gene: LIG4 were changed from 606593 LIG4 syndrome to LIG4 syndrome, OMIM:606593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.110 | LIG4 | Louise Daugherty Classified gene: LIG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.110 | LIG4 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.110 | LIG4 | Louise Daugherty Gene: lig4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | LIG4 |
Louise Daugherty Source Expert Review Green was added to LIG4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | LIG4 |
Louise Daugherty Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 606593 LIG4 syndrome for gene: LIG4 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | LIG4 | Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | LIG4 | Frances Smith reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606593 LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | LIG4 |
Louise Daugherty Added phenotypes 606593 LIG4 syndrome for gene: LIG4 Publications for gene LIG4 were changed from to 20133615; 16088910; 11779494 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | LIG4 | Louise Daugherty Source NHS GMS was added to LIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | LIG4 |
Louise Daugherty gene: LIG4 was added gene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: LIG4 was set to |
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