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Possible mitochondrial disorder - nuclear genes v3.103 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 to Glycogen storage disease Ia, OMIM:232200
Possible mitochondrial disorder - nuclear genes v3.24 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 to Pyruvate carboxylase deficiency, OMIM:266150
Possible mitochondrial disorder - nuclear genes v3.14 MPC1 Arina Puzriakova Phenotypes for gene: MPC1 were changed from Lactic acidosis and hyperpyruvatemia to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Possible mitochondrial disorder - nuclear genes v1.42 PMPCB Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow commented on gene: G6PC
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Classified gene: PMPCB as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.167 PMPCB Ellen McDonagh Phenotypes for gene: PMPCB were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6, 617954
Possible mitochondrial disorder - nuclear genes v0.166 PMPCB Ellen McDonagh Publications for gene: PMPCB were set to
Possible mitochondrial disorder - nuclear genes v0.134 PMPCB Carl Fratter reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576218; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Classified gene: PMPCB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.5 G6PC Ivone Leong reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease Ia, 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCB Ivone Leong reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCA Ivone Leong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PC Ivone Leong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MPC1 Ivone Leong reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22628558; Phenotypes: Lactic acidosis and hyperpyruvatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 G6PC Ivone Leong gene: G6PC was added
gene: G6PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200
Possible mitochondrial disorder - nuclear genes v0.3 PMPCB Ivone Leong gene: PMPCB was added
gene: PMPCB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954
Possible mitochondrial disorder - nuclear genes v0.3 PMPCA Ivone Leong gene: PMPCA was added
gene: PMPCA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
Possible mitochondrial disorder - nuclear genes v0.3 PC Ivone Leong gene: PC was added
gene: PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150
Possible mitochondrial disorder - nuclear genes v0.2 MPC1 Ivone Leong gene: MPC1 was added
gene: MPC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC1 were set to 22628558
Phenotypes for gene: MPC1 were set to Lactic acidosis and hyperpyruvatemia