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| Structural eye disease v1.67 | POLH | Arina Puzriakova Phenotypes for gene: POLH were changed from XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | POLH | Nicola Ragge reviewed gene: POLH: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | POLH | Ivone Leong edited their review of gene: POLH: Changed phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | POLH | Ivone Leong reviewed gene: POLH: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | POLH |
Ivone Leong Source NHS GMS was added to POLH. Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 for gene: POLH |
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| Structural eye disease v0.2 | POLH |
Ellen McDonagh gene: POLH was added gene: POLH was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: POLH was set to |
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