PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
162 actions
Vitamin metabolism disorders v1.7 THAP11 Zornitza Stark Phenotypes for gene: THAP11 were changed from Methylmalonic aciduria and homocystinuria MONDO:0016826 to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Vitamin metabolism disorders v1.6 THAP11 Zornitza Stark edited their review of gene: THAP11: Changed phenotypes: Methylmalonic aciduria, cblC type-like, MIM# 620940, Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Vitamin metabolism disorders v1.6 MCEE Zornitza Stark Marked gene: MCEE as ready
Vitamin metabolism disorders v1.6 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson changed review comment from: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition.
Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert list
Vitamin metabolism disorders v1.6 MUT Bryony Thompson changed review comment from: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition.
Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.
Sources: Expert list
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson Classified gene: MCEE as Green List (high evidence)
Vitamin metabolism disorders v1.6 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.5 MCEE Bryony Thompson gene: MCEE was added
gene: MCEE was added to Vitamin metabolism disorders. Sources: Expert list
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 20301409
Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615
Review for gene: MCEE was set to GREEN
gene: MCEE was marked as current diagnostic
Added comment: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition.
Sources: Expert list
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Marked gene: MUT as ready
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Classified gene: MUT as Green List (high evidence)
Vitamin metabolism disorders v1.4 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Vitamin metabolism disorders v1.3 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Vitamin metabolism disorders. Sources: Expert list
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 20301409
Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Review for gene: MUT was set to GREEN
gene: MUT was marked as current diagnostic
Added comment: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition.
Sources: Expert list
Vitamin metabolism disorders v1.2 UBIAD1 Bryony Thompson gene: UBIAD1 was added
gene: UBIAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBIAD1 were set to 18176953, 23169578, 31323021, 30785396, 30223810
Phenotypes for gene: UBIAD1 were set to Schnyder corneal dystrophy MONDO:0007374 MIM#611632; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 EPHX1 Bryony Thompson gene: EPHX1 was added
gene: EPHX1 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX1 were set to 34342583
Phenotypes for gene: EPHX1 were set to Familial hypercholanemia MONDO:0011905; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 VKORC1 Bryony Thompson gene: VKORC1 was added
gene: VKORC1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 GGCX Bryony Thompson gene: GGCX was added
gene: GGCX was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662, 30531603, 26758921
Phenotypes for gene: GGCX were set to vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Vitamin metabolism disorders. Sources: Expert Review green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308, 7719340
Phenotypes for gene: TTPA were set to familial isolated deficiency of vitamin E MONDO:0010188; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP24A1 Bryony Thompson gene: CYP24A1 was added
gene: CYP24A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 21675912, 22047572, 33516786, 33186763, 32866123, 32743688
Phenotypes for gene: CYP24A1 were set to Other disorders of vitamin metabolism; hypercalcemia, infantile, 1 MONDO:0020739
Vitamin metabolism disorders v1.2 VDR Bryony Thompson gene: VDR was added
gene: VDR was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 2849209, 9005998, 17970811
Phenotypes for gene: VDR were set to vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP2R1 Bryony Thompson gene: CYP2R1 was added
gene: CYP2R1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933, 28548312
Phenotypes for gene: CYP2R1 were set to vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 CYP27B1 Bryony Thompson gene: CYP27B1 was added
gene: CYP27B1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 9486994, 9415400, 12050193, 27473561, 34492747, 33823104
Phenotypes for gene: CYP27B1 were set to vitamin D-dependent rickets, type 1A MONDO:0020723; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RLBP1 Bryony Thompson gene: RLBP1 was added
gene: RLBP1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RLBP1 were set to 9326942
Phenotypes for gene: RLBP1 were set to Other disorders of vitamin metabolism; RLBP1-related retinopathy MONDO:0100444
Vitamin metabolism disorders v1.2 ALDH1A3 Bryony Thompson gene: ALDH1A3 was added
gene: ALDH1A3 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 23312594, 23591992, 30200890
Phenotypes for gene: ALDH1A3 were set to Isolated microphthalmia 8 MONDO:0014050; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RBP3 Bryony Thompson gene: RBP3 was added
gene: RBP3 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66 MONDO:0014093; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RDH12 Bryony Thompson gene: RDH12 was added
gene: RDH12 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH12 were set to 15322982; 16269441
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13 MONDO:0012990; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RDH5 Bryony Thompson gene: RDH5 was added
gene: RDH5 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RDH5 were set to 32232344; 10369264
Phenotypes for gene: RDH5 were set to Fundus albipunctatus; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RPE65 Bryony Thompson gene: RPE65 was added
gene: RPE65 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPE65 were set to 9326941
Phenotypes for gene: RPE65 were set to Disorders of vitamin A metabolism; RPE65-related recessive retinopathy MONDO:0100368
Vitamin metabolism disorders v1.2 LRAT Bryony Thompson gene: LRAT was added
gene: LRAT was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRAT were set to 11381255
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14
Vitamin metabolism disorders v1.2 STRA6 Bryony Thompson gene: STRA6 was added
gene: STRA6 was added to Vitamin metabolism disorders. Sources: Expert Review Amber
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 21901792, 18316031, 24852372
Phenotypes for gene: STRA6 were set to Matthew-Wood syndrome MONDO:0011010; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RBP4 were set to Other disorders of vitamin metabolism; microphthalmia, isolated, with coloboma 10 MONDO:0014635
Vitamin metabolism disorders v1.2 BCO1 Bryony Thompson gene: BCO1 was added
gene: BCO1 was added to Vitamin metabolism disorders. Sources: Expert Review Red
Mode of inheritance for gene: BCO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCO1 were set to 17951468
Phenotypes for gene: BCO1 were set to Other disorders of vitamin metabolism; hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272
Vitamin metabolism disorders v1.2 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171, 17935213
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MONDO:0008818; Other disorders of vitamin metabolism
Vitamin metabolism disorders v1.2 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Vitamin metabolism disorders. Sources: Expert review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660, 1409720
Phenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 PLPBP Bryony Thompson gene: PLPBP was added
gene: PLPBP was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLPBP were set to 30668673, 36795901
Phenotypes for gene: PLPBP were set to pyridoxine-dependent epilepsy MONDO:0009945; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 PNPO Bryony Thompson gene: PNPO was added
gene: PNPO was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 34769443, 33981986, 33748042, 32888189
Phenotypes for gene: PNPO were set to Pyridoxal phosphate-responsive seizures MONDO:0012407; Disorders of pyridoxine metabolism
Vitamin metabolism disorders v1.2 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804, 28489334, 27021474
Phenotypes for gene: COASY were set to neurodegeneration with brain iron accumulation 6 MONDO:0014290; Disorders of pantothenate and CoA metabolism
Vitamin metabolism disorders v1.2 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 25778941, 11479594, 12510040, 28863176
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration MONDO:0009319; Disorders of pantothenate and CoA metabolism
Vitamin metabolism disorders v1.2 NNT Bryony Thompson gene: NNT was added
gene: NNT was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 26309815, 22634753
Phenotypes for gene: NNT were set to Disorders of niacin and NAD metabolism; glucocorticoid deficiency 4 MONDO:0013874
Vitamin metabolism disorders v1.2 NAXD Bryony Thompson gene: NAXD was added
gene: NAXD was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Disorders of niacin and NAD metabolism; Mitochondrial disease MONDO:0044970
Vitamin metabolism disorders v1.2 NAXE Bryony Thompson gene: NAXE was added
gene: NAXE was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014, 27616477, 31758406
Phenotypes for gene: NAXE were set to Apolipoprotein A-I binding protein deficiency; Disorders of niacin and NAD metabolism
Vitamin metabolism disorders v1.2 NADK2 Bryony Thompson gene: NADK2 was added
gene: NADK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004, 27940755, 23212377, 28923496, 29388319
Phenotypes for gene: NADK2 were set to Disorders of niacin and NAD metabolism; 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Vitamin metabolism disorders v1.2 NMNAT1 Bryony Thompson gene: NMNAT1 was added
gene: NMNAT1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184
Phenotypes for gene: NMNAT1 were set to Disorders of niacin and NAD metabolism; Leber congenital amaurosis 9 MONDO:0012056
Vitamin metabolism disorders v1.2 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 17412732, 27038534, 19249206, 15710863, 32804429
Phenotypes for gene: ETFDH were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 7912128, 12815589, 27081516, 12706375, 30626930
Phenotypes for gene: ETFB were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 1430199, 1882842, 21347544
Phenotypes for gene: ETFA were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation
Vitamin metabolism disorders v1.2 SLC25A32 Bryony Thompson gene: SLC25A32 was added
gene: SLC25A32 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MONDO:0014795; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 FLAD1 Bryony Thompson gene: FLAD1 was added
gene: FLAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 34454814,34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219
Phenotypes for gene: FLAD1 were set to myopathy with abnormal lipid metabolism MONDO:0009703; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 26973221
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867; Disorders of riboflavin metabolism
Vitamin metabolism disorders v1.2 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 26973221
Phenotypes for gene: SLC52A3 were set to Disorders of riboflavin metabolism; Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Vitamin metabolism disorders v1.2 MTHFD1 Bryony Thompson gene: MTHFD1 was added
gene: MTHFD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFD1 were set to 32414565; 19033438
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 7920641; 26872964
Phenotypes for gene: MTHFR were set to Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 27743887; 30420205; 19732866
Phenotypes for gene: FOLR1 were set to Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 SLC46A1 Bryony Thompson gene: SLC46A1 was added
gene: SLC46A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17129779; 7446347; 21333572
Phenotypes for gene: SLC46A1 were set to Hereditary folate malabsorption MONDO:0009238; Disorders of folate metabolism
Vitamin metabolism disorders v1.2 MMAA Bryony Thompson gene: MMAA was added
gene: MMAA was added to Vitamin metabolism disorders. Sources: Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 12438653; 15523652
Phenotypes for gene: MMAA were set to Disorders of cobalamin metabolism; methylmalonic aciduria, cblA type MONDO:0009613
Vitamin metabolism disorders v1.2 CD320 Bryony Thompson gene: CD320 was added
gene: CD320 was added to Vitamin metabolism disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD320 were set to 27604308; 29663633; 30303736
Phenotypes for gene: CD320 were set to Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341
Vitamin metabolism disorders v1.2 HLCS Bryony Thompson gene: HLCS was added
gene: HLCS was added to Vitamin metabolism disorders. Sources: Expert Review Green,ClinGen
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HLCS were set to 10190325
Phenotypes for gene: HLCS were set to Disorders of biotin metabolism; holocarboxylase synthetase deficiency MONDO:0009666
Vitamin metabolism disorders v1.1 Bryony Thompson Panel name changed from Inherited vitamin B12 or cobalamin deficiency to Vitamin metabolism disorders
HPO terms changed from Abnormality of vitamin B12 metabolism, HP:0004341 to Abnormality of vitamin metabolism, HP:0100508
List of related panels changed from Abnormality of vitamin B12 metabolism; HP:0004341 to Abnormality of vitamin metabolism; HP:0100508
Vitamin metabolism disorders v1.0 Bryony Thompson promoted panel to version 1.0
Vitamin metabolism disorders v0.36 MMADHC Bryony Thompson Tag treatable tag was added to gene: MMADHC.
Vitamin metabolism disorders v0.36 MMACHC Bryony Thompson Tag treatable tag was added to gene: MMACHC.
Vitamin metabolism disorders v0.36 LMBRD1 Bryony Thompson Tag treatable tag was added to gene: LMBRD1.
Vitamin metabolism disorders v0.36 CUBN Bryony Thompson Tag treatable tag was added to gene: CUBN.
Vitamin metabolism disorders v0.36 ABCD4 Bryony Thompson Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; disorder of vitamin B12 metabolism
Vitamin metabolism disorders v0.35 Bryony Thompson Panel status changed from internal to public
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson Marked gene: TCN1 as ready
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson Gene: tcn1 has been classified as Amber List (Moderate Evidence).
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson changed review comment from: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels
Sources: Literature; to: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first-degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels. Also, 4 homozygotes were identified in a study of a loss-of-function variant associated with lower vitamin B12 concentration in African Americans but there was limited ability to assess the clinical impact of the recessive disease
Sources: Literature
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson edited their review of gene: TCN1: Changed publications: 29764838, 19686235
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson Classified gene: TCN1 as Amber List (moderate evidence)
Vitamin metabolism disorders v0.34 TCN1 Bryony Thompson Gene: tcn1 has been classified as Amber List (Moderate Evidence).
Vitamin metabolism disorders v0.33 TCN1 Bryony Thompson gene: TCN1 was added
gene: TCN1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN1 were set to 19686235
Phenotypes for gene: TCN1 were set to transcobalamin I deficiency MONDO:0008659
Review for gene: TCN1 was set to AMBER
Added comment: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels
Sources: Literature
Vitamin metabolism disorders v0.32 MTRR Bryony Thompson Marked gene: MTRR as ready
Vitamin metabolism disorders v0.32 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.32 MTRR Bryony Thompson Classified gene: MTRR as Green List (high evidence)
Vitamin metabolism disorders v0.32 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.31 MTR Bryony Thompson Marked gene: MTR as ready
Vitamin metabolism disorders v0.31 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.31 MTR Bryony Thompson Classified gene: MTR as Green List (high evidence)
Vitamin metabolism disorders v0.31 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.29 MMACHC Bryony Thompson Marked gene: MMACHC as ready
Vitamin metabolism disorders v0.29 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.29 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Vitamin metabolism disorders v0.29 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.28 LMBRD1 Bryony Thompson Marked gene: LMBRD1 as ready
Vitamin metabolism disorders v0.28 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.28 LMBRD1 Bryony Thompson Classified gene: LMBRD1 as Green List (high evidence)
Vitamin metabolism disorders v0.28 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.27 HCFC1 Bryony Thompson Marked gene: HCFC1 as ready
Vitamin metabolism disorders v0.27 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.27 HCFC1 Bryony Thompson Classified gene: HCFC1 as Green List (high evidence)
Vitamin metabolism disorders v0.27 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.26 GIF Bryony Thompson Marked gene: GIF as ready
Vitamin metabolism disorders v0.26 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.26 GIF Bryony Thompson Classified gene: GIF as Green List (high evidence)
Vitamin metabolism disorders v0.26 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.25 CUBN Bryony Thompson Marked gene: CUBN as ready
Vitamin metabolism disorders v0.25 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.25 CUBN Bryony Thompson Classified gene: CUBN as Green List (high evidence)
Vitamin metabolism disorders v0.25 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.24 AMN Bryony Thompson Marked gene: AMN as ready
Vitamin metabolism disorders v0.24 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.24 AMN Bryony Thompson Classified gene: AMN as Green List (high evidence)
Vitamin metabolism disorders v0.24 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.23 ABCD4 Bryony Thompson Marked gene: ABCD4 as ready
Vitamin metabolism disorders v0.23 ABCD4 Bryony Thompson Gene: abcd4 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.23 ABCD4 Bryony Thompson Classified gene: ABCD4 as Green List (high evidence)
Vitamin metabolism disorders v0.23 ABCD4 Bryony Thompson Gene: abcd4 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.21 THAP11 Bryony Thompson Marked gene: THAP11 as ready
Vitamin metabolism disorders v0.21 THAP11 Bryony Thompson Gene: thap11 has been classified as Red List (Low Evidence).
Vitamin metabolism disorders v0.21 TCN2 Bryony Thompson Marked gene: TCN2 as ready
Vitamin metabolism disorders v0.21 TCN2 Bryony Thompson Gene: tcn2 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.21 TCN2 Bryony Thompson Classified gene: TCN2 as Green List (high evidence)
Vitamin metabolism disorders v0.21 TCN2 Bryony Thompson Gene: tcn2 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.20 MTRR Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 MTR Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 MMADHC Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 MMACHC Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 LMBRD1 Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 HCFC1 Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 GIF Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 CUBN Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 AMN Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.20 ABCD4 Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.19 TCN2 Bryony Thompson gene: TCN2 was added
gene: TCN2 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 19373259
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Vitamin metabolism disorders v0.18 ZNF143 Bryony Thompson Marked gene: ZNF143 as ready
Vitamin metabolism disorders v0.18 ZNF143 Bryony Thompson Gene: znf143 has been classified as Amber List (Moderate Evidence).
Vitamin metabolism disorders v0.18 ZNF143 Bryony Thompson Classified gene: ZNF143 as Amber List (moderate evidence)
Vitamin metabolism disorders v0.18 ZNF143 Bryony Thompson Gene: znf143 has been classified as Amber List (Moderate Evidence).
Vitamin metabolism disorders v0.17 ZNF143 Bryony Thompson gene: ZNF143 was added
gene: ZNF143 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF143 were set to 27349184; 33845046; 9009278; 22268977; 27349184; 27349184
Phenotypes for gene: ZNF143 were set to methylmalonic aciduria and homocystinuria MONDO:0016826
Review for gene: ZNF143 was set to AMBER
Added comment: Only a single case with biallelic variants reported. However, given a Moderate gene-disease validity classification by the General Inborn Errors of Metabolism GCEP (assessed 05/03/2024). The gene-disease relationship is also supported by biochemical evidence, functional alteration assays, model systems, and rescue experiments
Sources: Literature
Vitamin metabolism disorders v0.16 THAP11 Bryony Thompson Classified gene: THAP11 as Red List (low evidence)
Vitamin metabolism disorders v0.16 THAP11 Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity classification on 09/02/2024 by General Inborn Errors of Metabolism GCEP
Vitamin metabolism disorders v0.16 THAP11 Bryony Thompson Gene: thap11 has been classified as Red List (Low Evidence).
Vitamin metabolism disorders v0.15 THAP11 Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.15 THAP11 Bryony Thompson gene: THAP11 was added
gene: THAP11 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THAP11 were set to 28449119
Phenotypes for gene: THAP11 were set to Methylmalonic aciduria and homocystinuria MONDO:0016826
Review for gene: THAP11 was set to RED
Added comment: Sources: Literature
Vitamin metabolism disorders v0.14 HCFC1 Bryony Thompson gene: HCFC1 was added
gene: HCFC1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 24011988
Phenotypes for gene: HCFC1 were set to methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657; disorder of cobalamin metabolism
Review for gene: HCFC1 was set to GREEN
gene: HCFC1 was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.13 ABCD4 Bryony Thompson gene: ABCD4 was added
gene: ABCD4 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Review for gene: ABCD4 was set to GREEN
gene: ABCD4 was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.12 MTR Bryony Thompson gene: MTR was added
gene: MTR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 8968735; 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria
Review for gene: MTR was set to GREEN
gene: MTR was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.11 LMBRD1 Bryony Thompson gene: LMBRD1 was added
gene: LMBRD1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 19136951; 27604308
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type MIM#277380; Disorders of cobalamin absorption, transport and metabolism
Review for gene: LMBRD1 was set to GREEN
gene: LMBRD1 was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.10 MTRR Bryony Thompson gene: MTRR was added
gene: MTRR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 27604308; 9501215
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids
Review for gene: MTRR was set to GREEN
gene: MTRR was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.9 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 27604308; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMADHC was set to GREEN
gene: MMADHC was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.8 PRDX1 Bryony Thompson Marked gene: PRDX1 as ready
Vitamin metabolism disorders v0.8 PRDX1 Bryony Thompson Gene: prdx1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.8 PRDX1 Bryony Thompson Classified gene: PRDX1 as Green List (high evidence)
Vitamin metabolism disorders v0.8 PRDX1 Bryony Thompson Gene: prdx1 has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.7 PRDX1 Bryony Thompson Tag digenic tag was added to gene: PRDX1.
Vitamin metabolism disorders v0.7 PRDX1 Bryony Thompson gene: PRDX1 was added
gene: PRDX1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: PRDX1 was set to Other
Publications for gene: PRDX1 were set to 29302025; 35190856
Phenotypes for gene: PRDX1 were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
Mode of pathogenicity for gene: PRDX1 was set to Other
Review for gene: PRDX1 was set to GREEN
Added comment: Only variants affecting the canonical splice acceptor site of intron 5 (e.g. c.515-1G-T, c.515-2A-T) that cause skipping of exon 6 and the polyA termination signal of PRDX1 produce an MMACHC epimutation. The resulting read-through transcript extends through the adjacent MMACHC locus in the antisense orientation. These PRDX1 exon 6 acceptor splice site variants cause disease through digenic inheritance with a pathogenic MMACHC on the other allele.
Sources: Literature
Vitamin metabolism disorders v0.6 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308; 16311595
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMACHC was set to GREEN
gene: MMACHC was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.5 MMAB Bryony Thompson Marked gene: MMAB as ready
Vitamin metabolism disorders v0.5 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.5 MMAB Bryony Thompson Classified gene: MMAB as Green List (high evidence)
Vitamin metabolism disorders v0.5 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.4 MMAB Bryony Thompson gene: MMAB was added
gene: MMAB was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAB were set to 12471062; 20556797; 35712814; 24813872
Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614
Review for gene: MMAB was set to GREEN
gene: MMAB was marked as current diagnostic
Added comment: Well-established gene-disease association. Inborn error of cobalamin metabolism.
Sources: Literature
Vitamin metabolism disorders v0.3 AMN Bryony Thompson gene: AMN was added
gene: AMN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260; 27604308
Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism
Review for gene: AMN was set to GREEN
gene: AMN was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.2 CUBN Bryony Thompson gene: CUBN was added
gene: CUBN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 10080186; 31613795
Phenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Review for gene: CUBN was set to GREEN
Added comment: Sources: Literature
Vitamin metabolism disorders v0.1 GIF Bryony Thompson gene: GIF was added
gene: GIF was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
new gene name tags were added to gene: GIF.
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 27604308; 14695536; 14576042
Phenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism
Review for gene: GIF was set to GREEN
gene: GIF was marked as current diagnostic
Added comment: Sources: Literature
Vitamin metabolism disorders v0.0 Bryony Thompson Added Panel Inherited vitamin B12 or cobalamin deficiency
Set list of related panels to Abnormality of vitamin B12 metabolism; HP:0004341
Set panel types to: Royal Melbourne Hospital; Rare Disease