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| Early onset dystonia v1.143 | FOXG1 | Arina Puzriakova Phenotypes for gene: FOXG1 were changed from Dystonia to Rett Syndrome, congenital variant OMIM:613454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.142 | FOXG1 | Arina Puzriakova Publications for gene: FOXG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.141 | FOXG1 | Arina Puzriakova Classified gene: FOXG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.141 | FOXG1 | Arina Puzriakova Gene: foxg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.140 | FOXG1 | Arina Puzriakova Classified gene: FOXG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.140 | FOXG1 | Arina Puzriakova Added comment: Comment on list classification: Upgrading the rating from red to green as there is enough evidence to support the gene-disease association. Also green on the childhood dystonia GMS panel (R57). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.140 | FOXG1 | Arina Puzriakova Gene: foxg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.139 | FOXG1 | Arina Puzriakova Mode of inheritance for gene: FOXG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.99 | FOXG1 |
Eldar Dedic changed review comment from: Dzinovic, et al. (2021, PMID: 34399161) analyzed 45 pediatric complex dystonia cases. The whole-exome-sequencing revealed de novo heterozygous FOXG1 c.703C >T (p.Leu235Phe) variant in 3 years of age female case of European ethnicity. Parents were Sanger sequenced. - Please note that FOXG1 c.703C >T (p.Leu235Phe) variant was absent from gnomAD v2.1.1 as of December 2021 Wong, et al. (2019, PMID: 31316448) analyzed 30 cases with encephalopathy and movement impairments. Whole-exome-sequencing revealed 3 variants (c.763 T>C (p.Trp255Arg); c.250delC (p.Gln86Argfs*106); c.256dupC (p.Gln86Aspfs*34)) in FOXG1 gene in 3 Han Chinese cases (between 2 and 17 years of age) from Taiwan who had dystonia , respectively (Table 1). - Please note that FOXG1 c.250delC (p.Gln86Argfs*106) variant was filtered from gnomAD v2.1.1, while FOXG1 c.763 T>C (p.Trp255Arg) and FOXG1 c.256dupC (p.Gln86Aspfs*34) variants were absent from gnomAD v2.1.1 as of December 2021 Mencarelli, et al. (2010, PMID: 19578037) analyzed 107 cases of European origin (including 60 Rett syndrome (RTT), 43 encephalopathy, and 4 RTT-like patients). The FOXG1 c.643T>C (p.Phe215Leu) variant has been found de novo in one 8 years of age female RTT patient with dystonia (diagnosed at 2 years of age) of French origin. - Please note that FOXG1 c.643T>C (p.Phe215Leu) variant was absent from gnomAD v2.1.1 as of December 2021; to: Dzinovic, et al. (2021, PMID: 34399161) analyzed 45 pediatric complex dystonia cases. The whole-exome-sequencing revealed de novo heterozygous FOXG1 c.703C >T (p.Leu235Phe) variant in 3 years of age female case of European ethnicity. Parents were Sanger sequenced. - Please note that FOXG1 c.703C >T (p.Leu235Phe) variant was absent from gnomAD v2.1.1 as of December 2021 Wong, et al. (2019, PMID: 31316448) analyzed 30 cases with encephalopathy and movement impairments. Whole-exome-sequencing revealed 3 variants (c.763 T>C (p.Trp255Arg); c.250delC (p.Gln86Argfs*106); c.256dupC (p.Gln86Aspfs*34)) in FOXG1 gene in 3 Han Chinese cases (between 2 and 17 years of age) from Taiwan who had dystonia, respectively (Table 1). - Please note that FOXG1 c.250delC (p.Gln86Argfs*106) variant was filtered from gnomAD v2.1.1, while FOXG1 c.763 T>C (p.Trp255Arg) and FOXG1 c.256dupC (p.Gln86Aspfs*34) variants were absent from gnomAD v2.1.1 as of December 2021 Mencarelli, et al. (2010, PMID: 19578037) analyzed 107 cases of European origin (including 60 Rett syndrome (RTT), 43 encephalopathy, and 4 RTT-like patients). The FOXG1 c.643T>C (p.Phe215Leu) variant has been found de novo in one 8 years of age female RTT patient with dystonia (diagnosed at 2 years of age) of French origin. - Please note that FOXG1 c.643T>C (p.Phe215Leu) variant was absent from gnomAD v2.1.1 as of December 2021 |
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| Early onset dystonia v1.99 | FOXG1 | Eldar Dedic reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34399161, 31316448, 19578037; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||