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Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh commented on gene: HMBS: Based on review from Sharon Whatley (International Porphyria Network), changed MOI from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh Deleted their comment
Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to Porphyria, acute intermittent, OMIM:176000; Porphyria, acute intermittent, nonerythroid variant, OMIM:176000; Leukoencephalopathy, porphyria-related OMIM:620711; leukoencephalopathy, porphyria-related, MONDO:0958226; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224
Cutaneous photosensitivity with a likely genetic cause v3.8 HMBS Sarah Leigh Added comment: Comment on phenotypes: Porphyria, acute intermittent, OMIM:176000;Porphyria, acute intermittent, nonerythroid variant, OMIM:176000;Leukoencephalopathy, porphyria-related OMIM:620711; leukoencephalopathy, porphyria-related, MONDO:0958226; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224
Cutaneous photosensitivity with a likely genetic cause v3.8 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000
Cutaneous photosensitivity with a likely genetic cause v3.7 HMBS Sarah Leigh Publications for gene: HMBS were set to
Cutaneous photosensitivity with a likely genetic cause v3.6 HMBS Sarah Leigh Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.5 HMBS Sharon Whatley reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: 6962637; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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.
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)
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.
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)
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