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| Severe microcephaly v2.293 | CHAMP1 | Eleanor Williams Tag Q2_21_rating was removed from gene: CHAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | CHAMP1 | Sarah Leigh commented on gene: CHAMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | CHAMP1 |
Eleanor Williams Source Expert Review Green was added to CHAMP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.131 | CHAMP1 | Ivone Leong Classified gene: CHAMP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.131 | CHAMP1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.131 | CHAMP1 | Ivone Leong Gene: champ1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.130 | CHAMP1 | Ivone Leong Tag Q2_21_rating tag was added to gene: CHAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.130 | CHAMP1 | Ivone Leong Added comment: Comment on publications: PMID: 26751395 additional paper | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.130 | CHAMP1 | Ivone Leong Publications for gene: CHAMP1 were set to 27148580; 26340335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.129 | CHAMP1 | Ivone Leong Phenotypes for gene: CHAMP1 were changed from Mental retardation, autosomal dominant 40 (MIM#616579) to Mental retardation, autosomal dominant 40, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | CHAMP1 |
Zornitza Stark gene: CHAMP1 was added gene: CHAMP1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAMP1 were set to 27148580; 26340335 Phenotypes for gene: CHAMP1 were set to Mental retardation, autosomal dominant 40 (MIM#616579) Review for gene: CHAMP1 was set to GREEN gene: CHAMP1 was marked as current diagnostic Added comment: PMID: 27148580; - 10 patients including 5 from Hempel et al (PMID: 26340335) - 7 with microcephaly defined as <3rd centile - all PTVs and de novo PMID: 26340335; - 5 unrelated patients OFC at birth ranges from -0.4 to -3.1 SD Sources: Expert list |
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