| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v4.22 | FILIP1 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: FILIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.22 | FILIP1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. 'watchlist' tag has been added to review the rating in the future new evidence.; to: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. The 'watchlist' tag has been added to review the rating in the future with any new evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.22 | FILIP1 | Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.22 | FILIP1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. 'watchlist' tag has been added to review the rating in the future new evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.22 | FILIP1 | Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.21 | FILIP1 |
Achchuthan Shanmugasundram gene: FILIP1 was added gene: FILIP1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452; 37163662 Phenotypes for gene: FILIP1 were set to microcephaly, MONDO:0001149 Review for gene: FILIP1 was set to AMBER Added comment: PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. Of these five patients, two unrelated patients had severe microcephaly (head circumference beyond 3 SD below the mean for age) and one patient from the family with three patients also had microcephaly (head circumference beyond 2 SD below the mean for age). PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). One of these cases only had borderline microcephaly (3rd percentile) and the other had OFC below 3rd percentile. Sources: Literature |
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