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| Severe microcephaly v2.292 | BPTF | Eleanor Williams Tag Q2_21_rating was removed from gene: BPTF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | BPTF | Sarah Leigh commented on gene: BPTF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | BPTF |
Eleanor Williams Source Expert Review Green was added to BPTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.122 | BPTF | Ivone Leong Classified gene: BPTF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.122 | BPTF | Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-diseas association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.122 | BPTF | Ivone Leong Gene: bptf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.121 | BPTF | Ivone Leong Tag Q2_21_rating tag was added to gene: BPTF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.121 | BPTF | Ivone Leong Added comment: Comment on publications: PMID:33522091 additonal paper describing 12/20 unrelated cases with microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.121 | BPTF | Ivone Leong Publications for gene: BPTF were set to 28942966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.120 | BPTF | Ivone Leong Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | BPTF |
Zornitza Stark gene: BPTF was added gene: BPTF was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BPTF were set to 28942966 Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 Review for gene: BPTF was set to GREEN gene: BPTF was marked as current diagnostic Added comment: Microcephaly observed in 7/9 individuals reported. Sources: Expert list |
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