| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intracerebral calcification disorders v1.25 | FARSB | Arina Puzriakova Tag for-review was removed from gene: FARSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.25 | FARSB | Arina Puzriakova Classified gene: FARSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.25 | FARSB | Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.24 | FARSB | Arina Puzriakova changed review comment from: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.24 | FARSB | Arina Puzriakova Classified gene: FARSB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.24 | FARSB | Arina Puzriakova Added comment: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.24 | FARSB | Arina Puzriakova Gene: farsb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.23 | FARSB | Arina Puzriakova Tag for-review tag was added to gene: FARSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.23 | FARSB | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.19 | FARSB | Arina Puzriakova Classified gene: FARSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.19 | FARSB | Arina Puzriakova Added comment: Comment on list classification: Rating Green following consultation with the clinical team - sufficient number of cases with the relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.19 | FARSB | Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | FARSB | Arina Puzriakova reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 29979980, 30014610; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | FARSB |
Zornitza Stark gene: FARSB was added gene: FARSB was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610 Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability Review for gene: FARSB was set to GREEN gene: FARSB was marked as current diagnostic Added comment: 7 unrelated families reported. Sources: Expert list |
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