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| Peroxisomal disorders v1.12 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.11 | ACBD5 | Arina Puzriakova Tag Q2_21_rating was removed from gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.11 | ACBD5 | Arina Puzriakova changed review comment from: Comment on list classification: There is are sufficient unrelated cases (4) to promote this gene to Green at the next GMS panel update.; to: Comment on list classification: There is are sufficient unrelated cases (4) to support a diagnostic-grade classification (Green) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.11 | ACBD5 | Arina Puzriakova Classified gene: ACBD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.11 | ACBD5 | Arina Puzriakova Gene: acbd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.10 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy (MIM#618863) to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.9 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 27799409; 23105016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.8 | ACBD5 | Arina Puzriakova Classified gene: ACBD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.8 | ACBD5 | Arina Puzriakova Added comment: Comment on list classification: There is are sufficient unrelated cases (4) to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.8 | ACBD5 | Arina Puzriakova Gene: acbd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.7 | ACBD5 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.7 | ACBD5 | Arina Puzriakova commented on gene: ACBD5: A fourth individual was identified by Dr Helen Brittain (Genomics England Clinical Fellow) who presented with retinal dystrophy, ataxia and developmental regression at 2 yrs old | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.7 | ACBD5 | Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal disorders v1.6 | ACBD5 |
Zornitza Stark gene: ACBD5 was added gene: ACBD5 was added to Peroxisomal disorders. Sources: Expert list Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409; 23105016 Phenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy (MIM#618863) Review for gene: ACBD5 was set to GREEN gene: ACBD5 was marked as current diagnostic Added comment: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation PMID: 27799409: 1 patient girl who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation PMID: 23105016: 1 family retinal dystrophy. Sources: Expert list |
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