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| Severe microcephaly v2.293 | FOXG1 | Eleanor Williams Tag Q2_21_rating was removed from gene: FOXG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | FOXG1 | Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | FOXG1 |
Eleanor Williams Source Expert Review Green was added to FOXG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.198 | FOXG1 | Sarah Leigh edited their review of gene: FOXG1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. PMID 27029630 reports 85% (23/27) of patients with FOXG1 variants have microcephaly, defined as greater than 2 SDs below the mean for age, acquired postnatally in most cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.198 | FOXG1 | Sarah Leigh Phenotypes for gene: FOXG1 were changed from Rett syndrome, congenital variant, MIM# 613454 to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.197 | FOXG1 | Sarah Leigh Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.196 | FOXG1 | Sarah Leigh Classified gene: FOXG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.196 | FOXG1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.196 | FOXG1 | Sarah Leigh Gene: foxg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.195 | FOXG1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: FOXG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | FOXG1 |
Zornitza Stark gene: FOXG1 was added gene: FOXG1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037 Phenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant, MIM# 613454 Review for gene: FOXG1 was set to GREEN gene: FOXG1 was marked as current diagnostic Added comment: More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype. Sources: Expert list |
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