| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.27 | CRIPT | Zornitza Stark Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies (MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.26 | CRIPT | Zornitza Stark Publications for gene: CRIPT were set to 24389050; 27250922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.25 | CRIPT | Zornitza Stark Classified gene: CRIPT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.25 | CRIPT | Zornitza Stark Gene: cript has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.24 | CRIPT | Karina Sandoval reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.24 | CRIPT | Suliman Khan reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36630262; Phenotypes: Short stature with microcephaly and distinctive facies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 | CRIPT | Zornitza Stark Marked gene: CRIPT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 | CRIPT | Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 | CRIPT | Zornitza Stark Phenotypes for gene: CRIPT were changed from SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES to Short stature with microcephaly and distinctive facies (MIM#615789) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.18 | CRIPT | Zornitza Stark Classified gene: CRIPT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.18 | CRIPT | Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.5 | CRIPT | Ain Roesley reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: None; Publications: 24389050, 27250922; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 | CRIPT |
Tiong Tan gene: CRIPT was added gene: CRIPT was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050; 27250922 Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES |
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