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| Intracerebral calcification disorders v1.27 | TINF2 | Arina Puzriakova Phenotypes for gene: TINF2 were changed from Revesz syndrome, MIM# 268130 to Revesz syndrome, 268130 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.26 | TINF2 | Arina Puzriakova Tag for-review was removed from gene: TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.26 | TINF2 | Arina Puzriakova Classified gene: TINF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.26 | TINF2 | Arina Puzriakova Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.25 | TINF2 |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green on this panel - intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene. |
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| Intracerebral calcification disorders v1.23 | TINF2 |
Arina Puzriakova changed review comment from: Comment on list classification: Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene. |
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| Intracerebral calcification disorders v1.23 | TINF2 | Arina Puzriakova Classified gene: TINF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.23 | TINF2 | Arina Puzriakova Added comment: Comment on list classification: Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.23 | TINF2 | Arina Puzriakova Gene: tinf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.22 | TINF2 | Arina Puzriakova Tag for-review tag was added to gene: TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.22 | TINF2 | Arina Puzriakova Added comment: Comment on publications: Added publications to support association with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.22 | TINF2 | Arina Puzriakova Publications for gene: TINF2 were set to 21477109; 18252230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.18 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TINF2 were set to 21477109; 18252230 Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130 Review for gene: TINF2 was set to GREEN gene: TINF2 was marked as current diagnostic Added comment: Brain calcifications are part of the phenotype. Sources: Expert list |
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