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| White matter disorders and cerebral calcification - narrow panel v2.9 | ACER3 | Sarah Leigh Tag Q1_22_rating was removed from gene: ACER3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | ACER3 | Sarah Leigh reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | ACER3 |
Sarah Leigh Source NHS GMS was added to ACER3. Source Expert Review Green was added to ACER3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Classified gene: ACER3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene Green on this panel at the next GMS review - now at least 5 unrelated families reported with homozygous variants (PMIDs: 26792856; 32816236; 34281620). Phenotypes that are consistent amongst all affected individuals comprise of developmental regression (motor and cognitive), dystonia, spasticity, and leukodystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Gene: acer3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.226 | ACER3 | Arina Puzriakova Publications for gene: ACER3 were set to 32816236; 26792856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 |
Arina Puzriakova Tag watchlist was removed from gene: ACER3. Tag Q1_22_rating tag was added to gene: ACER3. |
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| White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 | Arina Puzriakova reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34281620; Phenotypes: Leukodystrophy, progressive, early childhood-onset, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 | Arina Puzriakova Phenotypes for gene: ACER3 were changed from ?Leukodystrophy, progressive, early childhood-onset, OMIM:617762 to Leukodystrophy, progressive, early childhood-onset, OMIM:617762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Classified gene: ACER3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Gene: acer3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.93 | ACER3 | Ivone Leong Tag watchlist tag was added to gene: ACER3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.93 | ACER3 | Ivone Leong Phenotypes for gene: ACER3 were changed from Leukodystrophy to ?Leukodystrophy, progressive, early childhood-onset, OMIM:617762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.20 | ACER3 |
Zornitza Stark gene: ACER3 was added gene: ACER3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 32816236; 26792856 Phenotypes for gene: ACER3 were set to Leukodystrophy Review for gene: ACER3 was set to AMBER Added comment: Two families reported with bi-allelic variants, and paediatric onset progressive leukodystorphy. Functional data demonstrating ACER3 deficiency. Sources: Literature |
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