| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| White matter disorders and cerebral calcification - narrow panel v2.9 | ACBD5 | Sarah Leigh Tag Q2_21_rating was removed from gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | ACBD5 | Sarah Leigh reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | ACBD5 |
Sarah Leigh Source NHS GMS was added to ACBD5. Source Expert Review Green was added to ACBD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.44 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy, OMIM:618863 to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.43 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 23105016; 27899449; 27799409; 33427402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.42 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.41 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Classified gene: ACBD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Added comment: Comment on list classification: There is are sufficient unrelated cases (3) to support a diagnostic-grade classification (Green) at the next GMS panel update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Gene: acbd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.39 | ACBD5 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.39 | ACBD5 | Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 27799409, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | ACBD5 |
Ellen McDonagh gene: ACBD5 was added gene: ACBD5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016 |
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