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| Cutaneous photosensitivity with a likely genetic cause v2.3 | HMBS |
Arina Puzriakova Tag Q3_22_rating was removed from gene: HMBS. Tag Q3_22_expert_review was removed from gene: HMBS. |
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| Cutaneous photosensitivity with a likely genetic cause v2.3 | HMBS | Arina Puzriakova reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v2.2 | HMBS |
Arina Puzriakova Source NHS GMS was added to HMBS. Source Expert Review Amber was added to HMBS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Cutaneous photosensitivity with a likely genetic cause v1.10 | HMBS | Eleanor Williams commented on gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.10 | HMBS |
Eleanor Williams Tag Q3_21_expert_review was removed from gene: HMBS. Tag Q3_22_rating tag was added to gene: HMBS. Tag Q3_22_expert_review tag was added to gene: HMBS. |
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| Cutaneous photosensitivity with a likely genetic cause v1.8 | HMBS | Ivone Leong Tag Q3_21_expert_review tag was added to gene: HMBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.8 | HMBS | Ivone Leong commented on gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v1.3 | HMBS | Zornitza Stark reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32377710, 29731767, 25419136, 32197664, 30071891; Phenotypes: Porphyria, acute intermittent (MIM#176000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.11 | HMBS |
Catherine Snow Source Expert Review Green was added to HMBS. Added phenotypes Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cutaneous photosensitivity with a likely genetic cause v0.10 | HMBS | Catherine Snow reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.9 | HMBS |
Catherine Snow gene: HMBS was added gene: HMBS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 |
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