Severe microcephaly
Gene: FOXG1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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.Created: 3 Jun 2021, 11:58 a.m. | Last Modified: 3 Jun 2021, 11:58 a.m.
Panel Version: 2.198
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 3 Jun 2021, 11:19 a.m. | Last Modified: 3 Jun 2021, 11:19 a.m.
Panel Version: 2.196
More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype.
Sources: Expert listCreated: 4 Sep 2020, 10:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rett syndrome, congenital variant, MIM# 613454
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: FOXG1.
Source Expert Review Green was added to FOXG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037
Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: FOXG1.
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