Full data view for gene GCDH

Variant classification: please note that where there are several records of the same variant, classification of that variant
may differ between records depending on the reporting publication or the submitter's opinion. For the curator’s opinion on
the classification, please view the SUMMARY record or the concluded functional effect (value in column Effect after the /).
Information The variants shown are described using the NM_000159.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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     
+/+ 9 c.877G>A r.877g>a p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Anikster 1996 - - Germline - 1 - - - DNA, RNA RT-PCR, SEQ - - GA1 08900228-Fam5 II.3/ Table 1, Pat 5 PubMed: Anikster 1996 Family: three siblings, two affected sisters (LOVD Indiv ID: 00000951 & 00226095); For pedigree see full text M yes Israel Arab muslim (family lives in Hebron area) - - - - 1 Katrin Hinderhofer
+/+ 9 c.877G>A r.877g>a p.Ala293Thr Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Anikster 1996 - - Germline - 1 - - - DNA, RNA RT-PCR, SEQ - - GA1 08900228-Fam5 II.4 PubMed: Anikster 1996 Family: three siblings, two affected (LOVD Indiv ID: 00000939, brother & 00226095, sister); For pedigree see full text F yes Israel Arab muslim (family lives in Hebron area) - - - - 1 Katrin Hinderhofer
+/+ 9 c.877G>A r.877g>a p.Ala293Thr Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 unaffected carrier PubMed: Anikster 1996 - - Germline/De novo (untested) - 2 - - - DNA SEQ - - - - PubMed: Anikster 1996 2nd chromosome is normal / 2-generation family5, unaffected carrier parents - yes Israel moslem, Arab - - - - 2 Katrin Hinderhofer
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Harting 2009 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis M ? Chile - 04y - - - 1 Katrin Hinderhofer
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Viau 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Viau 2012 - M ? United States Hispanic - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.2 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.1 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.7 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.6 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.11 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 sibling of 10960496-Pat.10 ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A c.913G>A - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.37 PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Korman 2007 - - Germline/De novo (untested) - - - - - DNA SEQ Blood - GA1 17188916-Pat7 PubMed: Korman 2007 - F ? Israel Palestinian Arab - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Parent #1 - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Korman 2007 - - Germline - - - - - DNA SEQ Blood - GA1 17188916-Pat8 PubMed: Korman 2007 - M ? Israel Palestinian Arab - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Parent #1 - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Korman 2007 - - Germline - - - - - DNA SEQ Blood - GA1 17188916-Pat9 PubMed: Korman 2007 - M ? Israel Palestinian Arab - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.2 PubMed: van der Watt 2010 - F no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.3 PubMed: van der Watt 2010 Diagnosed by newborn screening M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.4 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.5 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.6 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.7 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.8 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.10 PubMed: van der Watt 2010 - F no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.11 PubMed: van der Watt 2010 - M no South Africa Mixed (African, European, East-Indian) - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.12 PubMed: van der Watt 2010 - M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 20732827-Pat.14 PubMed: van der Watt 2010 - F no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.5 PubMed: Schillaci 2016 Newborn screening for GA 1 was negative; Patient first presented in ACMGG 2008 meeting ? ? United States Phillipine - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Külkens 2005 - - Germline/De novo (untested) - - - - - ? ? - - GA1 Case report Fernández-Álvarez 2003, Movement Disorders, Vol.18, No.9, 2003, pp. 1058-1076; PubMed: Külkens 2005 Atypical late-onset GA-1; Maternal uncle & grandfather had epilepsy F no (Spain) - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.877g>a p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Anikster 1996 - - Germline - - - - - DNA, RNA PCR, SEQ blood - GA1 08900228-Fam5 II.2 PubMed: Anikster 1996 Family: three siblings of which two are affected as well (LOVD Indiv ID: 00000939, brother & 00000951, sister) F yes Israel Arab muslim (family lives in Hebron area) - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Ojwang 2001, PubMed: van der Watt 2010 - - Germline/De novo (untested) - - - - - ? ? - - GA1 12199454-Case report PubMed: Ojwang 2001, PubMed: van der Watt 2010 This patient is later described again by van der Watt 2010 (pat. 1) M no South Africa African - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Busquets 2000, PubMed: Artigas 1995 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, SEQ, SSCA bloood or fibroblasts - GA1 10960496-Pat.4 PubMed: Busquets 2000, PubMed: Artigas 1995 This patient was first described by Artigas 1995 (caso 1). The muation was identified by Busquets 2000; Family: one affected younger sister (Busquets 2000 Pat.5) F no Spain - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Busquets 2000, PubMed: Artigas 1995 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, SEQ, SSCA blood or fibroblasts - GA1 10960496-Pat.5 PubMed: Busquets 2000, PubMed: Artigas 1995 This patient was first described by Artigas 1995 (caso 2). The mutation was later identifies by Busquets 2000; Family: one affected older sister (Busquets 2000 Pat.4) F no Spain - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Busquets 2000 - - Germline - - - - - DNA, RNA PCR, SEQ, SSCA blood or fibroblasts - GA1 10960496-Pat.39 PubMed: Busquets 2000, PubMed: Merinero 1995 This patient was first described by Merinero 1995 (pat 6); Family: one affected brother (Pat.40) F no Spain - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, SEQ, SSCA blood or fibroblasts - GA1 10960496-Pat.40 PubMed: Busquets 2000, PubMed: Merinero 1995 This patient was first described by Merinero 1995 (Pat7); Family: one affected sister (Pat.39) M no Spain - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Mahfoud 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 17523120-Caso4 PubMed: Mahfoud 2007 - F no Venezuela - - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A Arg293Trp - GCDH_000006 - PubMed: Thomas 2018 - - Germline - - - - - ? ? - - GA1 29427049-Case report PubMed: Thomas 2018 Additional diseases: HIV, tuberculosis; Family: one sibling (healthy); Begin of L-carnitine supplimentation at age 01y08m, no low protein diet M ? South Africa Xhosa - - - - 1 Isabelle Rinke
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown ACMG pathogenic g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG/ACGS: PS4_Moderate, PM3_Very Strong, PP4, PP3_Strong, PS3_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 4/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat20 PubMed: Sitta 2021 - M no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 4/48 - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 5 PubMed: Sitta 2021 - F - Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 4/48 - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 3 PubMed: Sitta2021 - F ? Brazil - - - - Treatment: all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 4/48 - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 2 PubMed: Sitta2021 - M ? Brazil - - - - Treatment: all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 295 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 255 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 254 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 253 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 252 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 250 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 249 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 249 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 37020324-Patient number 248 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Unknown - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 247 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Both (homozygous) - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 ACMG criteria: PM1, PM2, PP3 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 246 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 9 c.877G>A r.(?) p.(Ala293Thr) Parent #2 - pathogenic (recessive) g.13007748G>A g.12896934G>A - - GCDH_000006 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat35 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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