Full data view for gene GOSR2

Information The variants shown are described using the NM_004287.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPAX4 ?;Pat5 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - 1 Erik-Jan Kamsteeg
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 homozygosity mapping, 0.3 cM shared ancestral haplotype; not in 584 control chromosomes PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - - EPM6 Pat1 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - - - DNA SEQ - - EPM6 Pat2 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Germany - >17y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - - - DNA SEQ - - EPM6 Pat3 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Netherlands - >32y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - - - DNA SEQ - - EPM6 Pat4 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Netherlands - >30y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - - - DNA SEQ - - EPM6 Pat5a PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F no Netherlands - 24y - - - 2 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - - - DNA SEQ - - EPM6 Pat5b PubMed: Corbett 2011, Journal: Corbett 2011 brother of 5a M no Netherlands - >28y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - - - DNA SEQ - - EPM6 Pat1;Pat8 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >19y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - - - DNA SEQ - - EPM6 Pat2;Pat12 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >26y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - - - DNA SEQ - - EPM6 Pat3;Pat9 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >20y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - - - DNA SEQ - - EPM6 Pat4;Pat5 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >12y - - - 1 Johan den Dunnen
+/. 5 c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: van Egmond 2015 - - Germline yes - - - - DNA SEQ - - EPM6 Pat5;patient;Pat4 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: van Egmond 2015, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >07y - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Unknown - pathogenic g.45012488G>T g.46935122G>T GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430G>T r.(?) p.(Gly144Trp) Unknown - pathogenic g.45012488G>T g.46935122G>T GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430G>T r.(?) p.(Gly144Trp) Unknown - pathogenic g.45012488G>T g.46935122G>T GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430G>T r.(?) p.(Gly144Trp) Unknown - pathogenic g.45012488G>T g.46935122G>T GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.430G>T r.(?) p.(Gly144Trp) Paternal (confirmed) - pathogenic g.45012488G>T g.46935122G>T - - GOSR2_000001 - - - - Germline yes - - - - DNA SEQ-NG Whole blood - EPM6 - - - F no United States - - - - - 1 Elizabeth Ulm
+/. - c.430G>T r.(?) p.(Gly144Trp) Parent #1 - pathogenic (recessive) g.45012488G>T - - - GOSR2_000001 - PubMed: Praschberger 2015 - - Germline - - - - - DNA SEQ - - EPM patient PubMed: Praschberger 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United Kingdom (Great Britain) - >61y - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat6 PubMed: Boisse Lomax 2013 patient, second cousin parents M yes Norway - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat7 PubMed: Boisse Lomax 2013 - M - Denmark - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat8 PubMed: Boisse Lomax 2013 - M - Netherlands - 27y - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat9 PubMed: Boisse Lomax 2013 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat10 PubMed: Boisse Lomax 2013 - M yes Denmark - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM Pat11;Pat7 PubMed: Boisse Lomax 2013, PubMed: Polet 2020 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Anderson 2016 - - Germline - - - - - DNA SEQ - - EPM PatIV1;Pat6 PubMed: Anderson 2016, PubMed: Polet 2020 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - South Africa Germany-N - - - - 3 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Anderson 2016 - - Germline - - - - - DNA SEQ - - EPM PatIV5;Pat15 PubMed: Anderson 2016, PubMed: Polet 2020 PatIV5 F - South Africa Germany-N - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Anderson 2016 - - Germline - - - - - DNA SEQ - - EPM PatIV6;Pat13 PubMed: Anderson 2016, PubMed: Polet 2020 PatIV6 F - South Africa Germany-N - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Parent #1 - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Larson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio-WES seizures FamPat2 PubMed: Larson 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - - - - 2 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Paternal (confirmed) - pathogenic (recessive) g.45012488G>T - - - GOSR2_000001 - PubMed: Henige 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES MDC patient PubMed: Henige 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Germany/UK - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Parent #1 - pathogenic (recessive) g.45012488G>T - - - GOSR2_000001 - Journal: Tsai 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC patient Journal: Tsai 2013, WMS Abs P1.20 - M - Australia - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T - - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM patients PubMed: Polet 2020 8 new patients F;M - - - - - - - 8 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Boisse Lomax 2013 - - Germline - - - - - DNA SEQ - - EPM - PubMed: Boisse Lomax 2013 - - - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat1 PubMed: Polet 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat2 PubMed: Polet 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat3 PubMed: Polet 2020 - F - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat10 PubMed: Polet 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat11 PubMed: Polet 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat14 PubMed: Polet 2020 - M - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat16 PubMed: Polet 2020 - F - - - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Gly144Trp) Both (homozygous) - pathogenic (recessive) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Polet 2020 - - Germline - - - - - DNA SEQ - - EPM Pat17 PubMed: Polet 2020 - F - - - - - - - 1 Johan den Dunnen
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