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| Severe microcephaly v2.293 | PUS7 | Eleanor Williams Tag Q2_21_rating was removed from gene: PUS7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | PUS7 | Sarah Leigh commented on gene: PUS7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | PUS7 |
Eleanor Williams Source Expert Review Green was added to PUS7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.178 | PUS7 | Eleanor Williams Tag Q2_21_rating tag was added to gene: PUS7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.178 | PUS7 | Eleanor Williams Classified gene: PUS7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.178 | PUS7 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for a green rating following GMS review. 4 families reported with a severe microcephaly phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.178 | PUS7 | Eleanor Williams Gene: pus7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.177 | PUS7 | Eleanor Williams Phenotypes for gene: PUS7 were changed from Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342 to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.176 | PUS7 | Eleanor Williams reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | PUS7 |
Zornitza Stark gene: PUS7 was added gene: PUS7 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342 Review for gene: PUS7 was set to GREEN gene: PUS7 was marked as current diagnostic Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. Sources: Expert list |
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