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| White matter disorders and cerebral calcification - narrow panel v2.9 | GTF2H5 |
Sarah Leigh Tag Q2_21_rating was removed from gene: GTF2H5. Tag Q2_21_expert_review was removed from gene: GTF2H5. |
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| White matter disorders and cerebral calcification - narrow panel v2.9 | GTF2H5 | Sarah Leigh reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | GTF2H5 |
Sarah Leigh Source Expert Review Amber was added to GTF2H5. Source NHS GMS was added to GTF2H5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong edited their review of gene: GTF2H5: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene should be demoted to Amber/Red at the next review.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: GTF2H5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Tag Q2_21_rating tag was added to gene: GTF2H5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Added comment: Comment on publications: 5 unrelated cases of patients with variants in this gene. There was no mention of any white matter changes in patients described in PMID: 24986372 and 15220921. PMID: 30359777, the affected patient had delayed myelination. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Publications for gene: GTF2H5 were set to 24986372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.131 | GTF2H5 | Ivone Leong Phenotypes for gene: GTF2H5 were changed from Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive to delayed myelination | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.130 | GTF2H5 | Ivone Leong Publications for gene: GTF2H5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | GTF2H5 | Zornitza Stark reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | GTF2H5 |
Ellen McDonagh gene: GTF2H5 was added gene: GTF2H5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive |
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