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Mitochondrial disease v0.297 OXA1L Bryony Thompson edited their review of gene: OXA1L: Changed publications: 30201738, 16435202
Mitochondrial disease v0.297 OXA1L Bryony Thompson gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.296 PET117 Bryony Thompson gene: PET117 was added
gene: PET117 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay
Review for gene: PET117 was set to RED
Added comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts.
Sources: NHS GMS
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.51 PITRM1 Bryony Thompson Marked gene: PITRM1 as ready
Ataxia v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.51 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Ataxia v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia v0.50 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Review for gene: PITRM1 was set to GREEN
Added comment: Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype.
Sources: Literature
Mitochondrial disease v0.294 PITRM1 Bryony Thompson edited their review of gene: PITRM1: Changed rating: GREEN
Mitochondrial disease v0.294 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Added comment: Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.292 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953
Review for gene: PLA2G6 was set to GREEN
Added comment: Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson gene: PTCD1 was added
gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Classified gene: PTCD3 as Amber List (moderate evidence)
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.289 PTCD3 Bryony Thompson gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Marked gene: D2HGDH as ready
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Classified gene: D2HGDH as Green List (high evidence)
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.287 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721
Review for gene: D2HGDH was set to GREEN
Added comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.286 IDH2 Bryony Thompson Marked gene: IDH2 as ready
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.286 IDH2 Bryony Thompson Classified gene: IDH2 as Green List (high evidence)
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.285 IDH2 Bryony Thompson gene: IDH2 was added
gene: IDH2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657
Review for gene: IDH2 was set to GREEN
Added comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported.
Sources: Literature
Mitochondrial disease v0.284 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.284 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.283 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS
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 HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to GREEN
Added comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.282 COASY Bryony Thompson Marked gene: COASY as ready
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.282 COASY Bryony Thompson Classified gene: COASY as Green List (high evidence)
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.281 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Review for gene: COASY was set to GREEN
Added comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.280 PPOX Bryony Thompson Marked gene: PPOX as ready
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.280 PPOX Bryony Thompson Classified gene: PPOX as Green List (high evidence)
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.279 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629
Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200
Review for gene: PPOX was set to GREEN
Added comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.278 HADHB Bryony Thompson Marked gene: HADHB as ready
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.278 HADHB Bryony Thompson Classified gene: HADHB as Green List (high evidence)
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.277 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015
Review for gene: HADHB was set to GREEN
Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.276 HADHA Bryony Thompson Marked gene: HADHA as ready
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.276 HADHA Bryony Thompson Classified gene: HADHA as Green List (high evidence)
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.275 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25778941; 7811722; 29459657
Phenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015
Review for gene: HADHA was set to GREEN
Added comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology.
Sources: NHS GMS, Literature
Mendeliome v0.1804 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mendeliome v0.1804 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mendeliome v0.1803 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mendeliome v0.1803 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mendeliome v0.1803 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1803 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.272 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.272 HADH Bryony Thompson Marked gene: HADH as ready
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.272 HADH Bryony Thompson Classified gene: HADH as Green List (high evidence)
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.271 HADH Bryony Thompson Classified gene: HADH as Amber List (moderate evidence)
Mitochondrial disease v0.271 HADH Bryony Thompson Gene: hadh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.270 HADH Bryony Thompson gene: HADH was added
gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Review for gene: HADH was set to GREEN
Added comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.269 CPT2 Bryony Thompson Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson edited their review of gene: CPT2: Changed phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson Marked gene: CPT2 as ready
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.268 CPT2 Bryony Thompson Classified gene: CPT2 as Green List (high evidence)
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.267 CPT2 Bryony Thompson gene: CPT2 was added
gene: CPT2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 25778941; 12673791; 30957255
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Review for gene: CPT2 was set to GREEN
Added comment: Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.266 CPT1A Bryony Thompson Marked gene: CPT1A as ready
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.266 CPT1A Bryony Thompson Classified gene: CPT1A as Green List (high evidence)
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.265 CPT1A Bryony Thompson gene: CPT1A was added
gene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 25778941; 12189492; 23430932
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120
Review for gene: CPT1A was set to GREEN
Added comment: Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mendeliome v0.1802 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1801 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.2473 MRPL3 Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.264 ACADVL Bryony Thompson Marked gene: ACADVL as ready
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.264 ACADVL Bryony Thompson Classified gene: ACADVL as Green List (high evidence)
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.263 ACADVL Bryony Thompson gene: ACADVL was added
gene: ACADVL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 25778941; 8845838; 29459657
Phenotypes for gene: ACADVL were set to VLCAD deficiency MIM#201475
Review for gene: ACADVL was set to GREEN
Added comment: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a mitochondrial fatty acid oxidation disorder. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1800 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mendeliome v0.1800 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1799 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mendeliome v0.1799 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mitochondrial disease v0.261 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.261 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.260 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Mitochondrial disease v0.259 ACADSB Bryony Thompson Classified gene: ACADSB as Green List (high evidence)
Mitochondrial disease v0.259 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Mitochondrial disease v0.258 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 25778941; 17945527
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation, a mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Cases are usually asymptomatic, but can have neurological symptoms.
Sources: NHS GMS, Literature
Mitochondrial disease v0.257 ACADS Bryony Thompson Marked gene: ACADS as ready
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.257 ACADS Bryony Thompson Classified gene: ACADS as Green List (high evidence)
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.256 ACADS Bryony Thompson gene: ACADS was added
gene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 25778941; 2808706; 29678161
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470
Review for gene: ACADS was set to GREEN
Added comment: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.255 ACADM Bryony Thompson Marked gene: ACADM as ready
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.255 ACADM Bryony Thompson Classified gene: ACADM as Green List (high evidence)
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.254 ACADM Bryony Thompson gene: ACADM was added
gene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 25778941; 1972503; 26223887
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
Review for gene: ACADM was set to GREEN
Added comment: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Marked gene: OXCT1 as ready
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.252 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Marked gene: HMGCS2 as ready
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Classified gene: HMGCS2 as Green List (high evidence)
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.250 HMGCS2 Bryony Thompson gene: HMGCS2 was added
gene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 25778941; 9337379; 23751782
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911
Review for gene: HMGCS2 was set to GREEN
Added comment: Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.249 HMGCL Bryony Thompson Marked gene: HMGCL as ready
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.249 HMGCL Bryony Thompson Classified gene: HMGCL as Green List (high evidence)
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.248 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 25778941; 11129331; 19036343
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency MIM#246450
Review for gene: HMGCL was set to GREEN
Added comment: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.246 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 31268215; 25778941; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750
Review for gene: ACAT1 was set to GREEN
Added comment: Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Marked gene: XPNPEP3 as ready
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Added comment: Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber.
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.244 XPNPEP3 Bryony Thompson gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356; 25778941
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159
Review for gene: XPNPEP3 was set to AMBER
Added comment: Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function.
Sources: NHS GMS, Literature
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Marked gene: SLC25A20 as ready
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Classified gene: SLC25A20 as Green List (high evidence)
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.242 SLC25A20 Bryony Thompson gene: SLC25A20 was added
gene: SLC25A20 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138
Review for gene: SLC25A20 was set to GREEN
Added comment: >3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation.
Sources: Literature, NHS GMS
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Classified gene: SLC22A5 as Green List (high evidence)
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.240 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140
Review for gene: SLC22A5 was set to GREEN
Added comment: >3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function.
Sources: NHS GMS, Literature
Mendeliome v0.1799 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1799 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1798 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mitochondrial disease v0.239 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mitochondrial disease v0.239 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.238 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mitochondrial disease v0.237 HLCS Zornitza Stark Classified gene: HLCS as Green List (high evidence)
Mitochondrial disease v0.237 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Mitochondrial disease v0.236 HLCS Zornitza Stark edited their review of gene: HLCS: Changed rating: GREEN
Mendeliome v0.1797 GATC Zornitza Stark Marked gene: GATC as ready
Mendeliome v0.1797 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mendeliome v0.1797 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mitochondrial disease v0.236 GATC Zornitza Stark Marked gene: GATC as ready
Mitochondrial disease v0.236 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.236 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mendeliome v0.1796 GATB Zornitza Stark Marked gene: GATB as ready
Mendeliome v0.1796 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mendeliome v0.1796 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings
Sources: NHS GMS
Mitochondrial disease v0.235 GATB Zornitza Stark Marked gene: GATB as ready
Mitochondrial disease v0.235 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mitochondrial disease v0.235 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings.
Sources: NHS GMS
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Classified gene: SLC25A10 as Amber List (moderate evidence)
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.233 SLC25A10 Bryony Thompson gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability
Sources: NHS GMS
Mendeliome v0.1795 EFTUD2 Elena Savva reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1795 PAX1 Elena Savva reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681087, 28657137, 23851939; Phenotypes: ?Otofaciocervical syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 SHANK2 Elena Savva reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30072871, 30911184; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Marked gene: SLC25A21 as ready
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Classified gene: SLC25A21 as Amber List (moderate evidence)
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.231 SLC25A21 Bryony Thompson gene: SLC25A21 was added
gene: SLC25A21 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18 MIM#618811
Review for gene: SLC25A21 was set to AMBER
Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Marked gene: SLC25A24 as ready
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Classified gene: SLC25A24 as Green List (high evidence)
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.229 SLC25A24 Bryony Thompson gene: SLC25A24 was added
gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A24 were set to 29100094; 29100093
Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289
Review for gene: SLC25A24 was set to GREEN
Added comment: De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.
Sources: NHS GMS
Mendeliome v0.1795 IFT172 Elena Savva reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26763875; Phenotypes: Retinitis pigmentosa 71 616394, Short-rib thoracic dysplasia 10 with or without polydactyly - 615630, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Added comment: Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Cataract v0.33 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Cataract v0.33 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.33 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency with Hyper-IgM type 1
Cataract v0.32 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.32 CD40LG Zornitza Stark Classified gene: CD40LG as Red List (low evidence)
Cataract v0.32 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Marked gene: CD3G as ready
Cataract v0.31 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient
Cataract v0.30 CD3G Zornitza Stark Publications for gene: CD3G were set to
Cataract v0.30 CD3G Zornitza Stark Classified gene: CD3G as Red List (low evidence)
Cataract v0.30 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Tag deep intronic tag was added to gene: FECH.
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 FECH Zornitza Stark Marked gene: FECH as ready
Mendeliome v0.1795 FECH Zornitza Stark Added comment: Comment when marking as ready: Evidence for dominant disease is limited. Please note there is a common, hypomorphic deep intronic variant, IVS3-48T-C, as well as an exon 10 deletion reported.
Mendeliome v0.1795 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Mendeliome v0.1795 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Mitochondrial disease v0.226 SLC39A8 Bryony Thompson gene: SLC39A8 was added
gene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 29453449; 27995398
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn MIM#616721
Review for gene: SLC39A8 was set to AMBER
Added comment: Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress.
Sources: NHS GMS
Mendeliome v0.1795 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1 177000 AR
Mendeliome v0.1794 FECH Zornitza Stark Publications for gene: FECH were set to
Mendeliome v0.1793 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1792 FECH Zornitza Stark Tag deep intronic tag was added to gene: FECH.
Cataract v0.29 AICDA Zornitza Stark Marked gene: AICDA as ready
Cataract v0.29 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Cataract v0.29 AICDA Zornitza Stark Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2 605258
Cataract v0.28 AICDA Zornitza Stark Publications for gene: AICDA were set to
Cataract v0.27 AICDA Zornitza Stark Classified gene: AICDA as Red List (low evidence)
Cataract v0.27 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2473 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Intellectual disability syndromic and non-syndromic v0.2472 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Intellectual disability syndromic and non-syndromic v0.2471 SPATA5 Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2470 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1792 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Mendeliome v0.1792 ADAM17 Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model.
Mendeliome v0.1792 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Mendeliome v0.1792 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory neonatal-onset skin and bowel disease, MIM#614328
Mendeliome v0.1791 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Mendeliome v0.1790 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1789 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Mendeliome v0.1789 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Cataract v0.26 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease
Cataract v0.25 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Cataract v0.24 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.23 ADAM17 Zornitza Stark Classified gene: ADAM17 as Red List (low evidence)
Cataract v0.23 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Rasopathy v0.15 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Rasopathy v0.15 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Rasopathy v0.15 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785
Rasopathy v0.14 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Other
Rasopathy v0.13 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Rasopathy v0.12 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.22 CD40LG Lauren Akesson reviewed gene: CD40LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with Hyper-IgM type 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.22 CD3G Lauren Akesson reviewed gene: CD3G: Rating: RED; Mode of pathogenicity: None; Publications: 31921117; Phenotypes: Immunodeficiency 17, CD3 gamma deficient; Mode of inheritance: None
Callosome v0.116 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Callosome v0.116 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Callosome v0.116 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Callosome v0.115 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Callosome v0.114 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.113 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, MIM#618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1788 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Mendeliome v0.1788 ZNF462 Zornitza Stark Added comment: Comment when marking as ready: Multiple congenital anomaly syndrome characterised by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations.
Mendeliome v0.1788 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Mendeliome v0.1788 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to 28513610
Mendeliome v0.1787 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Mendeliome v0.1786 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Mendeliome v0.1785 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1784 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Mendeliome v0.1784 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Mendeliome v0.1784 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Mendeliome v0.1783 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Mendeliome v0.1782 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.73 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Ichthyosis and Porokeratosis v0.72 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Ichthyosis and Porokeratosis v0.71 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.22 ADA Zornitza Stark Marked gene: ADA as ready
Cataract v0.22 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Cataract v0.22 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency 102700
Cataract v0.21 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.20 ADA Zornitza Stark Classified gene: ADA as Red List (low evidence)
Cataract v0.20 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Mendeliome v0.1781 TFAM Zornitza Stark gene: TFAM was added
gene: TFAM was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Cataract v0.19 BTK Lauren Akesson reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked agammaglobulinemia, isolated growth hormone deficiency type III with agammaglobulinemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1780 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1780 TIMM22 Zornitza Stark Classified gene: TIMM22 as Amber List (moderate evidence)
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1779 TIMM22 Zornitza Stark gene: TIMM22 was added
gene: TIMM22 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to mitochondrial myopathy; hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1777 TIMMDC1 Zornitza Stark gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mitochondrial disease v0.225 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mendeliome v0.1776 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1776 TMEM65 Zornitza Stark Classified gene: TMEM65 as Amber List (moderate evidence)
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1775 TMEM65 Zornitza Stark gene: TMEM65 was added
gene: TMEM65 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Review for gene: TMEM65 was set to AMBER
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance.
Sources: NHS GMS
Cataract v0.19 ANAPC1 Lauren Akesson reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: None
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Marked gene: SLC52A2 as ready
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence)
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.224 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 29053833; 29193829
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Review for gene: SLC52A2 was set to GREEN
Added comment: The phenotype of at least 7 cases resembles a phenotype similar to mitochondrial disorders, electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.222 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 29053833; 29193829
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Review for gene: SLC52A3 was set to GREEN
Added comment: The phenotype of >10 cases resembles a phenotype similar to mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mendeliome v0.1774 FECH Michelle Torres reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1 177000 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cataract v0.19 AICDA Lauren Akesson reviewed gene: AICDA: Rating: RED; Mode of pathogenicity: None; Publications: 11007475, 27789066, 27142677, 19575287; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Marked gene: SPATA5 as ready
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Classified gene: SPATA5 as Green List (high evidence)
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.220 SPATA5 Bryony Thompson gene: SPATA5 was added
gene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 30009132; 29343804
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons.
Sources: NHS GMS
Mendeliome v0.1774 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.19 ADAM17 Lauren Akesson edited their review of gene: ADAM17: Changed publications: 22010916, 25804906, 21041656, 22236242
Cataract v0.19 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Marked gene: SSBP1 as ready
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Added comment: Comment on list classification: Cases associated with mtDNA depletion without accumulation of multiple deletions
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.11 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Optic Atrophy v0.11 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.10 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Optic Atrophy. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Rasopathy v0.11 PTPN11 Michelle Torres reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11992261, PMID: 21533187, PMID: 24935154; Phenotypes: LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines), Metachondromatosis, 156250 AD, Noonan syndrome 1, 163950 AD, Leukemia, juvenile myelomonocytic, somatic, 607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1774 SSBP1 Bryony Thompson Marked gene: SSBP1 as ready
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1774 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1773 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mitochondrial disease v0.218 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mendeliome v0.1772 ZNF462 Elena Savva reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28513610; Phenotypes: Weiss-Kruszka syndrome, 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1772 HCFC1 Elena Savva reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23000143; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.70 NIPAL4 Michelle Torres reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17557927; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 612281 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cataract v0.19 ADA Lauren Akesson reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID-ADA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.217 TFAM Bryony Thompson Marked gene: TFAM as ready
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.217 TFAM Bryony Thompson Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.216 TFAM Bryony Thompson gene: TFAM was added
gene: TFAM was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Classified gene: TIMM22 as Amber List (moderate evidence)
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.214 TIMM22 Bryony Thompson changed review comment from: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS; to: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded.
Sources: NHS GMS
Mitochondrial disease v0.214 TIMM22 Bryony Thompson gene: TIMM22 was added
gene: TIMM22 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.212 TIMMDC1 Bryony Thompson gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Classified gene: TMEM65 as Amber List (moderate evidence)
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.210 TMEM65 Bryony Thompson edited their review of gene: TMEM65: Changed rating: AMBER
Mitochondrial disease v0.210 TMEM65 Bryony Thompson changed review comment from: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS; to: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mitochondrial disease v0.210 TMEM65 Bryony Thompson gene: TMEM65 was added
gene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mendeliome v0.1772 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1772 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1771 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.208 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.206 USMG5 Bryony Thompson gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 29917077; 30240627
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Review for gene: USMG5 was set to AMBER
Added comment: A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure.
Sources: NHS GMS
Mitochondrial disease v0.205 APTX Zornitza Stark Marked gene: APTX as ready
Mitochondrial disease v0.205 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COA7 Zornitza Stark Marked gene: COA7 as ready
Mitochondrial disease v0.205 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Mitochondrial disease v0.205 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Mitochondrial disease v0.205 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Mitochondrial disease v0.204 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Mitochondrial disease v0.203 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mitochondrial disease v0.203 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.203 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Mitochondrial disease v0.202 ATP5E Zornitza Stark Publications for gene: ATP5E were set to
Mitochondrial disease v0.201 ATP5E Zornitza Stark Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.200 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Mendeliome v0.1770 YME1L1 Zornitza Stark Marked gene: YME1L1 as ready
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1770 YME1L1 Zornitza Stark Classified gene: YME1L1 as Amber List (moderate evidence)
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1769 YME1L1 Zornitza Stark gene: YME1L1 was added
gene: YME1L1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11, MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mitochondrial disease v0.199 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mitochondrial disease v0.199 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.199 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Three siblings reported, bi-allelic duplications in gene, said to lead to reduced CoQ10.
Sources: Expert list
Mitochondrial disease v0.198 CEP89 Zornitza Stark edited their review of gene: CEP89: Changed rating: RED
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Marked gene: YME1L1 as ready
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson gene: YME1L1 was added
gene: YME1L1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mendeliome v0.1767 Bryony Thompson removed gene:ANXA11 from the panel
Mendeliome v0.1766 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.12 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Classified gene: AIFM1 as Red List (low evidence)
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Added comment: Comment on list classification: Motor neuron degeneration is not a prominent feature of the condition. Only one case reported.
Motor Neurone Disease v0.11 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.329 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.328 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Deafness. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 31129566
Phenotypes for gene: PLOD3 were set to Sensorineural deafness
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: This gene has a complex phenotype that includes features of a connective tissue disorder; 3/5 described unrelated families have sensorineural deafness as a feature (PMID as above plus an abstract from 2013 ESHG by Steichen-Gersdorf et al). At least one proband has required cochlear implantation.
Sources: Literature
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Stickler Syndrome v0.3 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.19 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Cataract v0.19 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green, unclear at present what proportion of affected individuals will have cataract as part of the phenotype.
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.19 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype.
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.24 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Stickler Syndrome v0.2 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Stickler Syndrome. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: Complex phenotype that includes features of a Stickler-like syndrome.
High myopia described in 3/5 described unrelated families
One description of retinal detachment
Facial dysmorphism with midface hypoplasia, microretrognathia

Other features include developmental delay and sensorineural hearing loss
Sources: Literature
Cataract v0.18 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to cataract
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families
Sources: Literature
Epidermolysis bullosa v0.23 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024
Phenotypes for gene: PLOD3 were set to Blistering skin lesions
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to AMBER
Added comment: Two unrelated families with complex phenotype
-18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years
- 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions

- A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin

As there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association.
Sources: Literature
Mendeliome v0.1765 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Mendeliome v0.1765 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.196 VPS13C Zornitza Stark Marked gene: VPS13C as ready
Mitochondrial disease v0.196 VPS13C Zornitza Stark Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disease v0.196 VPS13C Zornitza Stark Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840
Mitochondrial disease v0.195 VPS13C Zornitza Stark Publications for gene: VPS13C were set to
Mitochondrial disease v0.194 VPS13C Zornitza Stark Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.193 VPS13C Zornitza Stark reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1765 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mendeliome v0.1764 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mendeliome v0.1763 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1762 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mendeliome v0.1762 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.113 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Callosome v0.113 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.113 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Callosome v0.112 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Callosome v0.111 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.110 UQCRQ Zornitza Stark Classified gene: UQCRQ as Red List (low evidence)
Callosome v0.110 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.109 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.192 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mitochondrial disease v0.191 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1761 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Mendeliome v0.1761 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mendeliome v0.1760 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mendeliome v0.1759 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1758 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mendeliome v0.1758 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mendeliome v0.1757 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.188 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1757 UQCC3 Zornitza Stark Marked gene: UQCC3 as ready
Mendeliome v0.1757 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: None
Mendeliome v0.1757 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Marked gene: UQCC3 as ready
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mendeliome v0.1756 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mendeliome v0.1755 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1754 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mendeliome v0.1754 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.185 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mendeliome v0.1753 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.184 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1753 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mendeliome v0.1753 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1753 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mitochondrial disease v0.182 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mitochondrial disease v0.182 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mendeliome v0.1752 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mitochondrial disease v0.181 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mendeliome v0.1751 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1750 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mendeliome v0.1750 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.180 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.179 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mitochondrial disease v0.179 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.178 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1749 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mendeliome v0.1749 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mendeliome v0.1748 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mendeliome v0.1747 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1746 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mendeliome v0.1746 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1745 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.178 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mitochondrial disease v0.177 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mitochondrial disease v0.176 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.175 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.175 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.174 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.174 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mitochondrial disease v0.174 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.174 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636
Mitochondrial disease v0.173 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mitochondrial disease v0.172 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121; Phenotypes: Immunodeficiency 44, MIM# 616636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Classified gene: SLC25A38 as Green List (high evidence)
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.170 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Review for gene: SLC25A38 was set to GREEN
Added comment: SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins. Multiple affected families reported together with an animal model.
Sources: Expert list
Mendeliome v0.1745 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1745 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1744 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mendeliome. Sources: Expert list
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, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.168 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mitochondrial disease. Sources: Expert list
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, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mitochondrial disease v0.167 SDHB Zornitza Stark Marked gene: SDHB as ready
Mitochondrial disease v0.167 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.167 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.166 SDHB Zornitza Stark Publications for gene: SDHB were set to
Mitochondrial disease v0.165 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.164 SDHB Zornitza Stark Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disease v0.164 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.163 SDHB Zornitza Stark reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 22972948, 26925370; Phenotypes: Complex II deficiency, mitochondrial leucoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Classified gene: SDHAF2 as Red List (low evidence)
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.161 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: None
Mitochondrial disease v0.161 SACS Zornitza Stark Marked gene: SACS as ready
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.161 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.160 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 22307627; 20876471
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Review for gene: SACS was set to GREEN
Added comment: Progressive neurological disorder, multiple families reported, mitochondrial dysfunction.
Sources: Expert list
Mitochondrial disease v0.159 PDK3 Zornitza Stark Marked gene: PDK3 as ready
Mitochondrial disease v0.159 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.159 PDK3 Zornitza Stark Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905
Mitochondrial disease v0.158 PDK3 Zornitza Stark Publications for gene: PDK3 were set to
Mitochondrial disease v0.157 PDK3 Zornitza Stark Mode of inheritance for gene: PDK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PDK3 Zornitza Stark reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23297365, 28902413, 26801680; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PC Zornitza Stark Marked gene: PC as ready
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.156 PC Zornitza Stark Classified gene: PC as Green List (high evidence)
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.155 PC Zornitza Stark gene: PC was added
gene: PC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM# 266150
Review for gene: PC was set to GREEN
Added comment: Multiple families reported. Spectrum of severity ranging from death in infancy to a relatively benign condition. Correlates with variant impact with more severely affected individuals having at least one truncating variant.
Sources: Expert list
Mendeliome v0.1743 NFS1 Zornitza Stark Marked gene: NFS1 as ready
Mendeliome v0.1743 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mendeliome v0.1743 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.154 NFS1 Zornitza Stark Marked gene: NFS1 as ready
Mitochondrial disease v0.154 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.154 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mendeliome v0.1742 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mendeliome v0.1741 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1740 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mendeliome v0.1740 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.153 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mendeliome v0.1739 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.152 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.151 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mitochondrial disease v0.151 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.150 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1739 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Mendeliome v0.1739 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mendeliome v0.1739 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Mendeliome v0.1738 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Mendeliome v0.1737 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1736 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.149 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Review for gene: NDUFA6 was set to GREEN
gene: NDUFA6 was marked as current diagnostic
Added comment: Four unrelated children reported with bi-allelic variants in this gene and delayed development and/or neurologic deterioration in the first weeks or years of life. Two individuals died in infancy; the other 2 were unable to stand, walk, or speak, and had optic atrophy.
Sources: Expert list
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Regression v0.94 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Regression v0.94 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Regression v0.94 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Regression v0.93 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Regression v0.92 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Red List (low evidence)
Regression v0.92 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Regression v0.91 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: None
Mendeliome v0.1736 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Mendeliome v0.1736 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1736 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Mendeliome v0.1735 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mendeliome v0.1734 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1733 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mendeliome v0.1733 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1732 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.147 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mitochondrial disease v0.146 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.144 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1732 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Mendeliome v0.1732 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1732 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mendeliome v0.1731 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mendeliome v0.1730 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1729 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mendeliome v0.1729 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1728 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mitochondrial disease v0.143 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mitochondrial disease v0.142 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.140 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.140 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1728 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1728 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1727 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
gene: NADK2 was marked as current diagnostic
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mitochondrial disease v0.140 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.139 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.137 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM# 617675
Review for gene: MSTO1 was set to GREEN
gene: MSTO1 was marked as current diagnostic
Added comment: Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Sources: Expert list
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Genetic Epilepsy v0.635 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.634 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2470 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2469 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Regression v0.91 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.91 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.90 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mendeliome v0.1726 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1726 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1725 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.135 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mitochondrial disease v0.134 IDH3B Zornitza Stark Marked gene: IDH3B as ready
Mitochondrial disease v0.134 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.134 IDH3B Zornitza Stark Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572
Mitochondrial disease v0.133 IDH3B Zornitza Stark Publications for gene: IDH3B were set to
Mitochondrial disease v0.132 IDH3B Zornitza Stark Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.131 IDH3B Zornitza Stark Classified gene: IDH3B as Amber List (moderate evidence)
Mitochondrial disease v0.131 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.130 IDH3B Zornitza Stark reviewed gene: IDH3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.129 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27208207; 27696117
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
gene: HTRA2 was marked as current diagnostic
Added comment: Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.1724 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Mendeliome v0.1724 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Mendeliome v0.1724 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780
Mendeliome v0.1723 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Mendeliome v0.1722 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1721 BTD Zornitza Stark Marked gene: BTD as ready
Mendeliome v0.1721 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Mendeliome v0.1721 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Mendeliome v0.1720 BTD Zornitza Stark Publications for gene: BTD were set to
Mendeliome v0.1719 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1718 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Mendeliome v0.1718 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Mendeliome v0.1718 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Mendeliome v0.1717 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Mendeliome v0.1716 CTNNB1 Zornitza Stark Mode of pathogenicity for gene: CTNNB1 was changed from to Other
Mendeliome v0.1715 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25326669, 29435196, 27915094, 30640974; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 ERCC5 Chern Lim reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838033, 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, Xeroderma pigmentosum, group G, MIM# 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 BTD Chern Lim reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10801053, 12359137; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 CTNNB1 Teresa Zhao changed review comment from: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017); to: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017)
Mendeliome v0.1714 CTNNB1 Teresa Zhao reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PMID: 29435196, PMID: 27915094, PMID: 30640974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.106 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed phenotypes: Nephrotic syndrome
Mendeliome v0.1714 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed rating: RED
Mendeliome v0.1714 TET2 Zornitza Stark Marked gene: TET2 as ready
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1714 TET2 Zornitza Stark Classified gene: TET2 as Red List (low evidence)
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 TET2 Zornitza Stark reviewed gene: TET2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1713 ARL11 Zornitza Stark Marked gene: ARL11 as ready
Mendeliome v0.1713 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 ARL11 Zornitza Stark Mode of inheritance for gene: ARL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1712 ARL11 Zornitza Stark Classified gene: ARL11 as Red List (low evidence)
Mendeliome v0.1712 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 ARL11 Zornitza Stark reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1711 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Mendeliome v0.1711 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Mendeliome v0.1710 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Mendeliome v0.1709 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1708 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Mendeliome v0.1708 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1707 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.5 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Lysosomal Storage Disorder v0.4 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Lysosomal Storage Disorder v0.3 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Lysosomal Storage Disorder v0.2 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.1 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1707 SEMA6B Zornitza Stark Marked gene: SEMA6B as ready
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1707 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1706 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Marked gene: SEMA6B as ready
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Genetic Epilepsy v0.633 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.632 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Mendeliome v0.1705 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Mendeliome v0.1704 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Mendeliome v0.1704 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Mendeliome v0.1703 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Ciliopathies v0.73 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Ciliopathies v0.73 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Ciliopathies v0.72 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Bardet Biedl syndrome v0.23 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed rating: GREEN
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark changed review comment from: Single family plus functional data.
Sources: Expert list; to: Single family plus functional data (zebrafish model consistent with ciliopathy).
Sources: Expert list
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed publications: 27486776, 32144365
Renal Ciliopathies and Nephronophthisis v0.99 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Renal Ciliopathies and Nephronophthisis v0.98 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported. However, neither had renal disease.; Changed publications: 27486776, 32144365
Mendeliome v0.1703 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Mendeliome v0.1703 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Mendeliome v0.1703 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Mendeliome v0.1702 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Mendeliome v0.1701 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
Mendeliome v0.1700 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.89 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Regression v0.89 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.89 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Regression v0.88 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Regression v0.87 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.86 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Regression v0.86 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.85 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2468 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
Intellectual disability syndromic and non-syndromic v0.2467 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1700 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1699 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: At least 6 multigenerational families reported where variants segregated with disease.
Sources: Expert list
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Added comment: Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 TNNI3K Ivan Macciocca gene: TNNI3K was added
gene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: mutliple families reported. Green on England PanelApp
Sources: Expert list
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Marked gene: KREMEN1 as ready
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Publications for gene: KREMEN1 were set to
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Classified gene: KREMEN1 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.19 KREMEN1 Zornitza Stark reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.19 Zornitza Stark Panel name changed from Ectodermal Dysplasia_RMH to Ectodermal Dysplasia
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Marked gene: ENAM as ready
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Gene: enam has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650
Review for gene: ENAM was set to RED
Added comment: Affects teeth only.
Sources: Expert list
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Marked gene: PKP1 as ready
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Classified gene: PKP1 as Green List (high evidence)
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.16 PKP1 Bryony Thompson gene: PKP1 was added
gene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 26288439; 9326952
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536
Review for gene: PKP1 was set to GREEN
Added comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list
Microcephaly v0.100 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Microcephaly v0.100 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Microcephaly v0.100 GPT2 Zornitza Stark Classified gene: GPT2 as Green List (high evidence)
Microcephaly v0.100 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Microcephaly v0.99 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 27601654; 25758935
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, MIM#616281
Review for gene: GPT2 was set to GREEN
Added comment: Two missense and 1 truncating variants reported, in 3 unrelated consanguineous families with intellectual and developmental disabilities and microcephaly. Functional studies showed loss of enzyme activity.
Sources: Expert list
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Marked gene: NFKBIA as ready
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Classified gene: NFKBIA as Green List (high evidence)
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.14 NFKBIA Bryony Thompson gene: NFKBIA was added
gene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKBIA were set to 28597146
Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132
Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NFKBIA was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream.
Sources: Expert list
Mendeliome v0.1698 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Mendeliome v0.1698 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Mendeliome v0.1698 GPT2 Zornitza Stark Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281
Mendeliome v0.1697 GPT2 Zornitza Stark Publications for gene: GPT2 were set to
Mendeliome v0.1696 GPT2 Zornitza Stark Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1695 GPT2 Zornitza Stark reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2467 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Intellectual disability syndromic and non-syndromic v0.2467 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2467 GPT2 Zornitza Stark Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281
Intellectual disability syndromic and non-syndromic v0.2466 GPT2 Zornitza Stark Publications for gene: GPT2 were set to
Intellectual disability syndromic and non-syndromic v0.2465 GPT2 Zornitza Stark Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Marked gene: NECTIN1 as ready
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Gene: nectin1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Classified gene: NECTIN1 as Green List (high evidence)
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Gene: nectin1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.12 NECTIN1 Bryony Thompson gene: NECTIN1 was added
gene: NECTIN1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 25913853
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
Review for gene: NECTIN1 was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported
Sources: Expert list
Ectodermal Dysplasia v0.11 KRT74 Bryony Thompson Classified gene: KRT74 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.11 KRT74 Bryony Thompson Gene: krt74 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.10 KRT74 Bryony Thompson reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 24714551; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Marked gene: IKBKG as ready
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Classified gene: IKBKG as Green List (high evidence)
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.9 IKBKG Bryony Thompson gene: IKBKG was added
gene: IKBKG was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to 10839543; 30422821
Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1 MIM3300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301; Incontinentia pigmenti MIM#308300
Review for gene: IKBKG was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported.
Sources: Expert list
Mitochondrial disease v0.128 HLCS Zornitza Stark Marked gene: HLCS as ready
Mitochondrial disease v0.128 HLCS Zornitza Stark Gene: hlcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.128 HLCS Zornitza Stark Classified gene: HLCS as Amber List (moderate evidence)
Mitochondrial disease v0.128 HLCS Zornitza Stark Gene: hlcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.127 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM# 253270
Review for gene: HLCS was set to AMBER
Added comment: HCS localises to nucleus. Clinical presentation is with metabolic acidosis, which could potentially mimic a mitochondrial disorder.
Sources: Expert list
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Classified gene: GDAP1 as Green List (high evidence)
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.125 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Review for gene: GDAP1 was set to GREEN
Added comment: GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Overexpression of Gdap1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. Gdap1-specific knockdown by RNA interference resulted in a tubular mitochondrial morphology.
Sources: Expert list
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson changed review comment from: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list.
Sources: Expert list; to: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, a skeletal ciliopathy.
Sources: Expert list
Mitochondrial disease v0.124 FXN Zornitza Stark Marked gene: FXN as ready
Mitochondrial disease v0.124 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disease v0.124 FXN Zornitza Stark Phenotypes for gene: FXN were changed from to Friedreich ataxia, MIM# 229300
Mitochondrial disease v0.123 FXN Zornitza Stark Publications for gene: FXN were set to
Mitochondrial disease v0.122 FXN Zornitza Stark Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.121 FXN Zornitza Stark reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10500103, 11351132; Phenotypes: Friedreich ataxia, MIM# 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.121 ETFB Zornitza Stark Marked gene: ETFB as ready
Mitochondrial disease v0.121 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.121 ETFA Zornitza Stark Marked gene: ETFA as ready
Mitochondrial disease v0.121 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Mendeliome v0.1695 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Mendeliome v0.1695 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Mendeliome v0.1695 ERCC6L2 Zornitza Stark Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM# 615715
Mendeliome v0.1694 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Mendeliome v0.1693 ERCC6L2 Zornitza Stark Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1692 ERCC6L2 Zornitza Stark reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Added comment: Comment when marking as ready: Agree, not in the scope of this panel.
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM#615715
Mitochondrial disease v0.120 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Mitochondrial disease v0.120 ERCC6L2 Zornitza Stark Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.119 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Red List (low evidence)
Mitochondrial disease v0.119 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2464 GPT2 Chern Lim reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.118 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Mitochondrial disease v0.118 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.118 DNM2 Zornitza Stark Classified gene: DNM2 as Green List (high evidence)
Mitochondrial disease v0.118 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.117 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: DNM2 were set to Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Lethal congenital contracture syndrome 5, MIM# 615368
Review for gene: DNM2 was set to GREEN
gene: DNM2 was marked as current diagnostic
Added comment: Involved in mitochondrial division, histopathological abnormalities affecting mitochondria reported. Neuromuscular presentation, AR variants are thought to be hypomorphic.
Sources: Expert list
Mitochondrial disease v0.116 CYCS Zornitza Stark Marked gene: CYCS as ready
Mitochondrial disease v0.116 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Mitochondrial disease v0.116 CYCS Zornitza Stark Phenotypes for gene: CYCS were changed from to Thrombocytopenia 4, MIM#612004
Mitochondrial disease v0.115 CYCS Zornitza Stark Publications for gene: CYCS were set to
Mitochondrial disease v0.114 CYCS Zornitza Stark Mode of inheritance for gene: CYCS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.113 CA5A Zornitza Stark Marked gene: CA5A as ready
Mitochondrial disease v0.113 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.113 CA5A Zornitza Stark Classified gene: CA5A as Green List (high evidence)
Mitochondrial disease v0.113 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.112 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Review for gene: CA5A was set to GREEN
Added comment: Acute onset of encephalopathy in infancy or early childhood with metabolic acidosis and respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Episodic acute events in early childhood with intercurrent illness but relatively limited neurological sequelae.
Sources: Expert list
Mendeliome v0.1692 PPM1E Zornitza Stark Marked gene: PPM1E as ready
Mendeliome v0.1692 PPM1E Zornitza Stark Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.1692 PPM1E Zornitza Stark Gene: ppm1e has been classified as Red List (Low Evidence).
Mendeliome v0.1692 PPM1E Zornitza Stark Classified gene: PPM1E as Red List (low evidence)
Mendeliome v0.1692 PPM1E Zornitza Stark Gene: ppm1e has been classified as Red List (Low Evidence).
Mendeliome v0.1691 PPM1E Naomi Baker reviewed gene: PPM1E: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Usher Syndrome v0.4 USH1C Zornitza Stark Marked gene: USH1C as ready
Usher Syndrome v0.4 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Usher Syndrome v0.4 USH1C Teresa Zhao reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome, type 1C, 276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM#300257
Dilated Cardiomyopathy v0.19 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to
Dilated Cardiomyopathy v0.18 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.109 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Callosome v0.109 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Callosome v0.109 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Callosome v0.109 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Callosome v0.108 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Callosome. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Mendeliome v0.1691 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Mendeliome v0.1691 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Mendeliome v0.1691 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Mendeliome v0.1691 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Mendeliome v0.1690 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2463 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.17 LAMP2 Teresa Zhao reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25228319, 27165304; Phenotypes: Danon disease, 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2462 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2461 SLC5A6 Zornitza Stark Publications for gene: SLC5A6 were set to 31754459; 27904971
Intellectual disability syndromic and non-syndromic v0.2460 SLC5A6 Zornitza Stark changed review comment from: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature; to: Three unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2460 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed publications: 31754459, 27904971, 31392107
Mendeliome v0.1689 RARS Zornitza Stark Marked gene: RARS as ready
Mendeliome v0.1689 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Mendeliome v0.1689 RARS Zornitza Stark Phenotypes for gene: RARS were changed from to Leukodystrophy, hypomyelinating, 9 MIM# 616140
Mendeliome v0.1688 RARS Zornitza Stark Publications for gene: RARS were set to
Mendeliome v0.1687 RARS Zornitza Stark Mode of inheritance for gene: RARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1686 RARS Zornitza Stark reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31814314; Phenotypes: Leukodystrophy, hypomyelinating, 9 MIM# 616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Marked gene: RARS as ready
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Classified gene: RARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2459 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 MIM# 616140
Review for gene: RARS was set to GREEN
gene: RARS was marked as current diagnostic
Added comment: 15 families reported, DD/ID is part of the phenotype.
Sources: Expert list
Mendeliome v0.1686 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Mendeliome v0.1686 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Mendeliome v0.1685 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Added comment: Additional 3 families reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013
Intellectual disability syndromic and non-syndromic v0.2458 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2458 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2457 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Added comment: Additional report of three more families, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Marked gene: IFT43 as ready
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Classified gene: IFT43 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.7 IFT43 Bryony Thompson gene: IFT43 was added
gene: IFT43 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 21378380; 29896747
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3 MIM#614099
Review for gene: IFT43 was set to AMBER
Added comment: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list.
Sources: Expert list
Mendeliome v0.1685 TNR Zornitza Stark Marked gene: TNR as ready
Mendeliome v0.1685 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Mendeliome v0.1685 TNR Zornitza Stark Classified gene: TNR as Green List (high evidence)
Mendeliome v0.1685 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Mendeliome v0.1684 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Literature
Cerebral Palsy v0.14 TNR Zornitza Stark Marked gene: TNR as ready
Cerebral Palsy v0.14 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Marked gene: CTNND1 as ready
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Gene: ctnnd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Classified gene: CTNND1 as Green List (high evidence)
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Gene: ctnnd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.5 CTNND1 Bryony Thompson gene: CTNND1 was added
gene: CTNND1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNND1 were set to 28301459
Phenotypes for gene: CTNND1 were set to Blepharocheilodontic syndrome 2 MIM#617681
Review for gene: CTNND1 was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. Four cases from three unrelated families.
Sources: Expert list
Cerebral Palsy v0.14 TNR Zornitza Stark Classified gene: TNR as Green List (high evidence)
Cerebral Palsy v0.14 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Cerebral Palsy v0.13 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Cerebral Palsy. Sources: Expert list
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Marked gene: TNR as ready
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Marked gene: CHD1 as ready
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Gene: chd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Classified gene: CHD1 as Green List (high evidence)
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Gene: chd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.3 CHD1 Bryony Thompson gene: CHD1 was added
gene: CHD1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: Phenotype includes at least two ectodermal structures: translucent skin and cranial-facial feature. >3 cases with mostly de novo variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Classified gene: TNR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2457 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2456 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Expert list
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Marked gene: RSPRY1 as ready
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Skeletal dysplasia v0.10 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.9 RSPRY1 Zornitza Stark gene: RSPRY1 was added
gene: RSPRY1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Review for gene: RSPRY1 was set to AMBER
Added comment: Two unrelated individuals reported, some functional evidence.
Sources: Expert list
Mendeliome v0.1683 RSPRY1 Zornitza Stark Marked gene: RSPRY1 as ready
Mendeliome v0.1683 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1683 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Mendeliome v0.1682 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to
Mendeliome v0.1681 RSPRY1 Zornitza Stark Mode of inheritance for gene: RSPRY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1680 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Mendeliome v0.1680 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2455 RSPRY1 Zornitza Stark changed review comment from: Two unrelated individuals reported, some functional evidence.
Sources: Expert list; to: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype.
Sources: Expert list
Mendeliome v0.1679 RSPRY1 Zornitza Stark reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2455 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2455 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2454 RSPRY1 Zornitza Stark gene: RSPRY1 was added
gene: RSPRY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Review for gene: RSPRY1 was set to AMBER
Added comment: Two unrelated individuals reported, some functional evidence.
Sources: Expert list
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Hypertrichosis syndromes v0.12 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Hypertrichosis syndromes v0.11 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.10 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Hypertrichosis syndromes v0.10 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.9 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Mendeliome v0.1679 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Mendeliome v0.1679 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1679 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Intellectual disability syndromic and non-syndromic v0.2453 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Intellectual disability syndromic and non-syndromic v0.2452 RPS23 Zornitza Stark Publications for gene: RPS23 were set to 28257692
Intellectual disability syndromic and non-syndromic v0.2452 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Mendeliome v0.1678 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Mendeliome v0.1677 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1676 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1675 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Mendeliome v0.1675 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1674 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2451 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2450 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2450 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2449 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2449 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2448 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo variants in this gene and severe neurological phenotype, including microcephaly, seizures, visual impairment, profound developmental delay.
Sources: Expert list
Autism v0.77 RIMS1 Zornitza Stark Phenotypes for gene: RIMS1 were changed from to Autism
Autism v0.76 RIMS1 Zornitza Stark Publications for gene: RIMS1 were set to
Autism v0.75 RIMS1 Zornitza Stark Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.74 RIMS1 Zornitza Stark reviewed gene: RIMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25284784, 25961944; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2447 RIMS1 Zornitza Stark Marked gene: RIMS1 as ready
Intellectual disability syndromic and non-syndromic v0.2447 RIMS1 Zornitza Stark Gene: rims1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2447 RIMS1 Zornitza Stark Phenotypes for gene: RIMS1 were changed from to Autism; Cone-rod dystrophy 7 , MIM#603649
Intellectual disability syndromic and non-syndromic v0.2446 RIMS1 Zornitza Stark Publications for gene: RIMS1 were set to
Intellectual disability syndromic and non-syndromic v0.2445 RIMS1 Zornitza Stark Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2444 RIMS1 Zornitza Stark Classified gene: RIMS1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2444 RIMS1 Zornitza Stark Gene: rims1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2443 RIMS1 Zornitza Stark reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: None; Publications: 25284784, 12659814; Phenotypes: Autism, Cone-rod dystrophy 7 , MIM#603649; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2443 RHEB Zornitza Stark Marked gene: RHEB as ready
Intellectual disability syndromic and non-syndromic v0.2443 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2443 RHEB Zornitza Stark Phenotypes for gene: RHEB were changed from to Intellectual disability; Macrocephaly; Focal cortical dysplasia
Intellectual disability syndromic and non-syndromic v0.2442 RHEB Zornitza Stark Publications for gene: RHEB were set to
Intellectual disability syndromic and non-syndromic v0.2441 RHEB Zornitza Stark Mode of inheritance for gene: RHEB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.2440 RHEB Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other
Mitochondrial disease v0.111 MRPS34 Zornitza Stark Phenotypes for gene: MRPS34 were changed from to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Mitochondrial disease v0.110 MRPS34 Zornitza Stark Publications for gene: MRPS34 were set to
Mitochondrial disease v0.109 MRPS34 Zornitza Stark Mode of inheritance for gene: MRPS34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.108 MRPS34 Zornitza Stark reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777931; Phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Classified gene: MRPS34 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2440 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2439 MRPS34 Zornitza Stark gene: MRPS34 was added
gene: MRPS34 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS34 were set to 28777931
Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Review for gene: MRPS34 was set to GREEN
gene: MRPS34 was marked as current diagnostic
Added comment: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy.
Sources: Expert list
Mendeliome v0.1674 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Mendeliome v0.1674 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.1673 KANK1 Zornitza Stark changed review comment from: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.; to: Comment on list classification: Red for nephrotic after discussion with Chirag Patel.
Mendeliome v0.1673 FUT6 Zornitza Stark Marked gene: FUT6 as ready
Mendeliome v0.1673 FUT6 Zornitza Stark Gene: fut6 has been classified as Red List (Low Evidence).
Mendeliome v0.1673 FUT6 Zornitza Stark Phenotypes for gene: FUT6 were changed from to Fucosyltransferase 6 deficiency, MIM# 613852
Mendeliome v0.1672 FUT6 Zornitza Stark Classified gene: FUT6 as Red List (low evidence)
Mendeliome v0.1672 FUT6 Zornitza Stark Gene: fut6 has been classified as Red List (Low Evidence).
Mendeliome v0.1671 FUT6 Zornitza Stark reviewed gene: FUT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosyltransferase 6 deficiency, MIM# 613852; Mode of inheritance: None
Mendeliome v0.1671 FUT2 Zornitza Stark Marked gene: FUT2 as ready
Mendeliome v0.1671 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Mendeliome v0.1671 FUT2 Zornitza Stark Phenotypes for gene: FUT2 were changed from to [Bombay phenotype, digenic] 616754; {Norwalk virus infection, resistance to}; {Vitamin B12 plasma level QTL1} 612542
Mendeliome v0.1670 FUT2 Zornitza Stark Classified gene: FUT2 as Red List (low evidence)
Mendeliome v0.1670 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Mendeliome v0.1669 FUT2 Zornitza Stark reviewed gene: FUT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Bombay phenotype, digenic] 616754, {Norwalk virus infection, resistance to}, {Vitamin B12 plasma level QTL1} 612542; Mode of inheritance: None
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Classified gene: SSR4 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.41 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, MIM#300934
Review for gene: SSR4 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1669 HMGA2 Zornitza Stark Marked gene: HMGA2 as ready
Mendeliome v0.1669 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1669 HMGA2 Zornitza Stark Phenotypes for gene: HMGA2 were changed from to Silver-Russel syndrome
Mendeliome v0.1668 HMGA2 Zornitza Stark Publications for gene: HMGA2 were set to
Mendeliome v0.1667 HMGA2 Zornitza Stark Mode of inheritance for gene: HMGA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1666 HMGA2 Zornitza Stark Tag SV/CNV tag was added to gene: HMGA2.
Mendeliome v0.1666 HMGA2 Zornitza Stark Classified gene: HMGA2 as Amber List (moderate evidence)
Mendeliome v0.1666 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1665 HMGA2 Zornitza Stark reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29655892, 25809938; Phenotypes: Silver-Russel syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1665 DTD1 Zornitza Stark Marked gene: DTD1 as ready
Mendeliome v0.1665 DTD1 Zornitza Stark Gene: dtd1 has been classified as Red List (Low Evidence).
Mendeliome v0.1665 DTD1 Zornitza Stark Classified gene: DTD1 as Red List (low evidence)
Mendeliome v0.1665 DTD1 Zornitza Stark Gene: dtd1 has been classified as Red List (Low Evidence).
Mendeliome v0.1664 DTD1 Zornitza Stark reviewed gene: DTD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1664 UTS2B Zornitza Stark Marked gene: UTS2B as ready
Mendeliome v0.1664 UTS2B Zornitza Stark Gene: uts2b has been classified as Red List (Low Evidence).
Mendeliome v0.1664 UTS2B Zornitza Stark Classified gene: UTS2B as Red List (low evidence)
Mendeliome v0.1664 UTS2B Zornitza Stark Gene: uts2b has been classified as Red List (Low Evidence).
Mendeliome v0.1663 UTS2B Zornitza Stark reviewed gene: UTS2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.328 CDC14A Lilian Downie commented on gene: CDC14A
Ectodermal Dysplasia v0.2 CST6 Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.2 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.1 CST6 Bryony Thompson reviewed gene: CST6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30425301; Phenotypes: Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.1 BCS1L Bryony Thompson reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 24172246, 17314340, 9545407; Phenotypes: Bjornstad syndrome MIM#262000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.1 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2438 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Intellectual disability syndromic and non-syndromic v0.2438 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER
Mendeliome v0.1663 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Mendeliome v0.1663 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Mendeliome v0.1663 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486
Mendeliome v0.1662 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Mendeliome v0.1661 MFSD2A Zornitza Stark Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1660 MFSD2A Zornitza Stark reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.98 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Microcephaly v0.98 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Microcephaly v0.98 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486
Microcephaly v0.97 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Microcephaly v0.96 MFSD2A Zornitza Stark Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.95 MFSD2A Zornitza Stark reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Classified gene: MFSD2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2438 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2437 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD2A were set to 26005865; 26005868; 24828044
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, MIM# 616486
Review for gene: MFSD2A was set to GREEN
Added comment: Three unrelated families and two animal models.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2436 MED13 Zornitza Stark Marked gene: MED13 as ready
Intellectual disability syndromic and non-syndromic v0.2436 MED13 Zornitza Stark Gene: med13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2436 MED13 Zornitza Stark Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder 61, MIM# 618009
Intellectual disability syndromic and non-syndromic v0.2435 MED13 Zornitza Stark Publications for gene: MED13 were set to
Intellectual disability syndromic and non-syndromic v0.2434 MED13 Zornitza Stark Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2433 MED13 Zornitza Stark edited their review of gene: MED13: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2433 MED13 Zornitza Stark reviewed gene: MED13: Rating: ; Mode of pathogenicity: None; Publications: 29740699; Phenotypes: Intellectual developmental disorder 61, MIM# 618009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1660 MED12L Zornitza Stark Marked gene: MED12L as ready
Mendeliome v0.1660 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
Mendeliome v0.1660 MED12L Zornitza Stark Classified gene: MED12L as Green List (high evidence)
Mendeliome v0.1660 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
Mendeliome v0.1659 MED12L Zornitza Stark gene: MED12L was added
gene: MED12L was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED12L were set to 31155615
Phenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism
Review for gene: MED12L was set to GREEN
Added comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2433 MED12L Zornitza Stark Classified gene: MED12L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2433 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2432 MED12L Zornitza Stark gene: MED12L was added
gene: MED12L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED12L were set to 31155615
Phenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism
Review for gene: MED12L was set to GREEN
Added comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site).
Sources: Expert list
Mendeliome v0.1658 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Mendeliome v0.1658 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Mendeliome v0.1658 MCM3AP Zornitza Stark Classified gene: MCM3AP as Green List (high evidence)
Mendeliome v0.1658 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Mendeliome v0.1657 MCM3AP Zornitza Stark gene: MCM3AP was added
gene: MCM3AP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124
Review for gene: MCM3AP was set to GREEN
gene: MCM3AP was marked as current diagnostic
Added comment: At least 10 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Classified gene: MCM3AP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2431 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2430 MCM3AP Zornitza Stark gene: MCM3AP was added
gene: MCM3AP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124
Review for gene: MCM3AP was set to GREEN
gene: MCM3AP was marked as current diagnostic
Added comment: ID is a feature in many of the reported individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2429 MARS2 Zornitza Stark Classified gene: MARS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2429 MARS2 Zornitza Stark Gene: mars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2428 MARS2 Zornitza Stark reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1656 MAPRE2 Zornitza Stark Marked gene: MAPRE2 as ready
Mendeliome v0.1656 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Mendeliome v0.1656 MAPRE2 Zornitza Stark Phenotypes for gene: MAPRE2 were changed from to Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Mendeliome v0.1655 MAPRE2 Zornitza Stark Publications for gene: MAPRE2 were set to
Mendeliome v0.1654 MAPRE2 Zornitza Stark Mode of inheritance for gene: MAPRE2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1653 MAPRE2 Zornitza Stark reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975; Phenotypes: Symmetric circumferential skin creases, congenital, 2, MIM# 616734; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Marked gene: MAPRE2 as ready
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Classified gene: MAPRE2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2428 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2427 MAPRE2 Zornitza Stark gene: MAPRE2 was added
gene: MAPRE2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MAPRE2 were set to 26637975
Phenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Review for gene: MAPRE2 was set to GREEN
Added comment: ID is part of the phenotype, more severe in those with bi-allelic variants.
Sources: Expert list
Mendeliome v0.1653 PURA Zornitza Stark Marked gene: PURA as ready
Mendeliome v0.1653 PURA Zornitza Stark Gene: pura has been classified as Green List (High Evidence).
Mendeliome v0.1653 PURA Zornitza Stark Phenotypes for gene: PURA were changed from to Mental retardation, autosomal dominant 31, MIM# 616158
Mendeliome v0.1653 PURA Zornitza Stark Publications for gene: PURA were set to 25439098; 25342064; 12972605
Mendeliome v0.1652 PURA Zornitza Stark Publications for gene: PURA were set to
Mendeliome v0.1651 PURA Zornitza Stark Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1650 PURA Zornitza Stark reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.630 PURA Zornitza Stark Marked gene: PURA as ready
Genetic Epilepsy v0.630 PURA Zornitza Stark Gene: pura has been classified as Green List (High Evidence).
Genetic Epilepsy v0.630 PURA Zornitza Stark Phenotypes for gene: PURA were changed from to Mental retardation, autosomal dominant 31, MIM# 616158
Intellectual disability syndromic and non-syndromic v0.2426 PURA Zornitza Stark Marked gene: PURA as ready
Intellectual disability syndromic and non-syndromic v0.2426 PURA Zornitza Stark Gene: pura has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2426 PURA Zornitza Stark Phenotypes for gene: PURA were changed from to Mental retardation, autosomal dominant 31, MIM# 616158
Genetic Epilepsy v0.629 PURA Zornitza Stark Publications for gene: PURA were set to
Genetic Epilepsy v0.628 PURA Zornitza Stark Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2425 PURA Zornitza Stark Publications for gene: PURA were set to
Genetic Epilepsy v0.627 PURA Zornitza Stark reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2424 PURA Zornitza Stark Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2423 PURA Zornitza Stark reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.95 BPTF Zornitza Stark Marked gene: BPTF as ready
Microcephaly v0.95 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Microcephaly v0.95 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Microcephaly v0.94 BPTF Zornitza Stark Publications for gene: BPTF were set to
Microcephaly v0.93 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.92 BPTF Zornitza Stark reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2423 BPTF Zornitza Stark Marked gene: BPTF as ready
Intellectual disability syndromic and non-syndromic v0.2423 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2423 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Intellectual disability syndromic and non-syndromic v0.2422 BPTF Zornitza Stark Publications for gene: BPTF were set to
Intellectual disability syndromic and non-syndromic v0.2421 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2420 BPTF Zornitza Stark reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1650 BPTF Zornitza Stark Marked gene: BPTF as ready
Mendeliome v0.1650 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Mendeliome v0.1650 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Mendeliome v0.1649 BPTF Zornitza Stark Publications for gene: BPTF were set to
Mendeliome v0.1648 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.107 TRIO Zornitza Stark Marked gene: TRIO as ready
Callosome v0.107 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Callosome v0.107 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Callosome v0.106 TRIO Zornitza Stark Publications for gene: TRIO were set to
Callosome v0.106 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.105 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Callosome v0.105 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Callosome v0.104 TRIO Zornitza Stark reviewed gene: TRIO: Rating: RED; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1647 TRIO Zornitza Stark Marked gene: TRIO as ready
Mendeliome v0.1647 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Mendeliome v0.1647 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Mendeliome v0.1646 TRIO Zornitza Stark Publications for gene: TRIO were set to
Mendeliome v0.1645 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1644 TRIO Zornitza Stark reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.92 TRIO Zornitza Stark Marked gene: TRIO as ready
Microcephaly v0.92 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Microcephaly v0.92 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Microcephaly v0.91 TRIO Zornitza Stark Publications for gene: TRIO were set to
Microcephaly v0.90 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark changed review comment from: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1.; to: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly.
Microcephaly v0.89 TRIO Zornitza Stark reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark Marked gene: TRIO as ready
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2420 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Intellectual disability syndromic and non-syndromic v0.2419 TRIO Zornitza Stark Publications for gene: TRIO were set to
Intellectual disability syndromic and non-syndromic v0.2418 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2417 TRIO Zornitza Stark reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 CALM3 Zornitza Stark Marked gene: CALM3 as ready
Long QT Syndrome v0.7 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Long QT Syndrome v0.7 CALM3 Zornitza Stark Classified gene: CALM3 as Green List (high evidence)
Long QT Syndrome v0.7 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Long QT Syndrome v0.6 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM3 were set to 25460178; 31454269
Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782
Review for gene: CALM3 was set to GREEN
Added comment: Sources: Expert list
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM3 Zornitza Stark Classified gene: CALM3 as Red List (low evidence)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM3 Zornitza Stark Gene: calm3 has been classified as Red List (Low Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 CALM3 Zornitza Stark reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: None; Publications: 27516456; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic 6 618782; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 CALM3 Zornitza Stark Marked gene: CALM3 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.9 CALM3 Zornitza Stark Phenotypes for gene: CALM3 were changed from to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782
Catecholaminergic Polymorphic Ventricular Tachycardia v0.8 CALM3 Zornitza Stark Publications for gene: CALM3 were set to 31454269; 27516456
Catecholaminergic Polymorphic Ventricular Tachycardia v0.7 CALM3 Zornitza Stark Publications for gene: CALM3 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.6 CALM3 Zornitza Stark Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Congenital Disorders of Glycosylation v0.39 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.38 MAN1B1 Zornitza Stark reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2417 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Intellectual disability syndromic and non-syndromic v0.2417 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2417 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Intellectual disability syndromic and non-syndromic v0.2416 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2415 MAN1B1 Zornitza Stark reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1644 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Mendeliome v0.1644 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Mendeliome v0.1644 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Mendeliome v0.1643 MAN1B1 Zornitza Stark Publications for gene: MAN1B1 were set to
Mendeliome v0.1642 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2415 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Intellectual disability syndromic and non-syndromic v0.2415 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2415 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768
Intellectual disability syndromic and non-syndromic v0.2414 KMT2C Zornitza Stark Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2413 KMT2C Zornitza Stark reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2, MIM#617768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1641 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Mendeliome v0.1641 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Mendeliome v0.1641 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768
Mendeliome v0.1640 KMT2C Zornitza Stark Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1639 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Mendeliome v0.1639 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Mendeliome v0.1639 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia
Mendeliome v0.1638 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Added comment: Comment when marking as ready: Mild polymicrogyria described in SMA, 2B.
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291
Polymicrogyria and Schizencephaly v0.32 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Polymicrogyria and Schizencephaly v0.31 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.6 ACOX1 Bryony Thompson reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 18536048; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.6 AAAS Bryony Thompson Marked gene: AAAS as ready
Hereditary Spastic Paraplegia v0.6 AAAS Bryony Thompson Gene: aaas has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.6 AAAS Bryony Thompson Classified gene: AAAS as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.6 AAAS Bryony Thompson Gene: aaas has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.5 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 30381913
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550; complicated hereditary spastic paraplegia
Review for gene: AAAS was set to AMBER
Added comment: Two families reported with complicated HSP.
Sources: Expert list
Brain Calcification v0.14 JAM2 Zornitza Stark edited their review of gene: JAM2: Changed rating: GREEN
Catecholaminergic Polymorphic Ventricular Tachycardia v0.5 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.5 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.5 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Catecholaminergic Polymorphic Ventricular Tachycardia v0.4 RYR2 Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 RYR2 Ivan Macciocca reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark edited their review of gene: NUP188: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark changed review comment from: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestin et al 2019, plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.; to: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestig et al 2019 (died in early infancy), plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.
Intellectual disability syndromic and non-syndromic v0.2413 NUP188 Zornitza Stark edited their review of gene: NUP188: Changed publications: 32021605, 28726809
Mendeliome v0.1637 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Mendeliome v0.1637 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1637 NUDT2 Zornitza Stark Classified gene: NUDT2 as Amber List (moderate evidence)
Mendeliome v0.1637 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1636 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability
Review for gene: NUDT2 was set to AMBER
Added comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Classified gene: NUDT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2413 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2412 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability
Review for gene: NUDT2 was set to AMBER
Added comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant.
Sources: Expert list
Mendeliome v0.1635 BPTF Michelle Torres reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 CALM3 Ain Roesley changed review comment from: PMID: 31454269; 4 families including 1 consanguineous family. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val; to: PMID: 31454269; 4 families including 1 consanguineous family with LQTS. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val
Mendeliome v0.1635 SLC26A4 Elena Savva reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24599119; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791, Pendred syndrome 274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1635 MAP3K7 Michelle Torres reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome 157800 AD, Frontometaphyseal dysplasia 2 617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 CALM3 Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31454269; Phenotypes: Long QT syndrome 16 (MIM# 618782); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1635 MAN1B1 Elena Savva reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24348268; Phenotypes: Mental retardation, autosomal recessive 15; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1635 KMT2C Elena Savva reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1635 GLRX5 Elena Savva reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 3, pyridoxine-refractory, Spasticity, childhood-onset, with hyperglycinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.30 BICD2 Elena Savva reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635954, 32057122; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A. MIM: 615290, Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2411 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1635 NKAP Zornitza Stark Marked gene: NKAP as ready
Mendeliome v0.1635 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Mendeliome v0.1635 NKAP Zornitza Stark Classified gene: NKAP as Green List (high evidence)
Mendeliome v0.1635 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Mendeliome v0.1634 NKAP Zornitza Stark gene: NKAP was added
gene: NKAP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKAP were set to 26358559; 26350204; 31587868
Phenotypes for gene: NKAP were set to Intellectual disability
Review for gene: NKAP was set to GREEN
gene: NKAP was marked as current diagnostic
Added comment: 10 males from 8 unrelated families with missense mutations in NKAP (on Xq24) Hypotonia and tall stature with Marfanoid habitus was predominant phenotype. One variant (NM_024528:c.988G>A / p.Arg333Gln)
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Marked gene: NKAP as ready
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Classified gene: NKAP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2411 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2410 NKAP Zornitza Stark gene: NKAP was added
gene: NKAP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NKAP were set to 26358559; 26350204; 31587868
Phenotypes for gene: NKAP were set to Intellectual disability
Review for gene: NKAP was set to GREEN
gene: NKAP was marked as current diagnostic
Added comment: 10 males from 8 unrelated families with missense variants in NKAP. Main features: intellectual disability, hypotonia, tall stature with Marfanoid habitus. Recurrent variant (NM_024528:c.988G>A / p.Arg333Gln) seen in several families from different ethnic backgrounds.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2409 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Intellectual disability syndromic and non-syndromic v0.2409 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2409 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome
Intellectual disability syndromic and non-syndromic v0.2408 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Intellectual disability syndromic and non-syndromic v0.2407 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2406 NHP2 Zornitza Stark Classified gene: NHP2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2406 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2405 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987, Høyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2405 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Intellectual disability syndromic and non-syndromic v0.2405 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2405 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Intellectual disability syndromic and non-syndromic v0.2404 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Intellectual disability syndromic and non-syndromic v0.2403 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2402 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2402 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2401 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2401 NGF Zornitza Stark Marked gene: NGF as ready
Intellectual disability syndromic and non-syndromic v0.2401 NGF Zornitza Stark Gene: ngf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2401 NGF Zornitza Stark Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654
Intellectual disability syndromic and non-syndromic v0.2400 NGF Zornitza Stark Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2399 NGF Zornitza Stark Classified gene: NGF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2399 NGF Zornitza Stark Gene: ngf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2398 NGF Zornitza Stark reviewed gene: NGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2398 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2398 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2397 NDUFV2 Zornitza Stark changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2397 NDUFV2 Zornitza Stark edited their review of gene: NDUFV2: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2397 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2397 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS6 Zornitza Stark changed review comment from: Multiple affected families, functional data.; to: Multiple affected families, functional data. Limited clinical information in some reports. In some families, the presentation has been with severe neonatal lactic acidosis, therefore difficult to be sure in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS6 Zornitza Stark edited their review of gene: NDUFS6: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2396 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS3 Zornitza Stark changed review comment from: At least three families reported.; to: At least three families reported. In the original report, the affected individual was phenotypically normal until 9 years of age but had rapidly progressive multi-system disease.
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS3 Zornitza Stark edited their review of gene: NDUFS3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2395 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark changed review comment from: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder.
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..
Intellectual disability syndromic and non-syndromic v0.2394 NDUFS2 Zornitza Stark edited their review of gene: NDUFS2: Changed rating: AMBER
Callosome v0.104 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Callosome v0.104 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Callosome v0.104 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Callosome v0.103 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Callosome v0.102 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.101 TBR1 Zornitza Stark Classified gene: TBR1 as Red List (low evidence)
Callosome v0.101 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Callosome v0.100 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: RED; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.74 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Autism v0.74 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
Autism v0.74 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Autism v0.73 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Autism v0.72 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.71 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2394 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Intellectual disability syndromic and non-syndromic v0.2394 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2394 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Intellectual disability syndromic and non-syndromic v0.2393 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Intellectual disability syndromic and non-syndromic v0.2392 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2391 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1633 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Mendeliome v0.1633 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1633 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Mendeliome v0.1632 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Mendeliome v0.1631 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.14 GNRHR Zornitza Stark Marked gene: GNRHR as ready
Differences of Sex Development v0.14 GNRHR Zornitza Stark Gene: gnrhr has been classified as Green List (High Evidence).
Differences of Sex Development v0.14 GNRHR Zornitza Stark Phenotypes for gene: GNRHR were changed from to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110
Differences of Sex Development v0.13 GNRHR Zornitza Stark Publications for gene: GNRHR were set to
Differences of Sex Development v0.12 GNRHR Zornitza Stark Mode of inheritance for gene: GNRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.11 GNRHR Zornitza Stark reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28348023, 9371856; Phenotypes: Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1630 GNRHR Zornitza Stark Marked gene: GNRHR as ready
Mendeliome v0.1630 GNRHR Zornitza Stark Gene: gnrhr has been classified as Green List (High Evidence).
Mendeliome v0.1630 GNRHR Zornitza Stark Phenotypes for gene: GNRHR were changed from to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110
Mendeliome v0.1629 GNRHR Zornitza Stark Publications for gene: GNRHR were set to
Mendeliome v0.1628 GNRHR Zornitza Stark Mode of inheritance for gene: GNRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2391 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Intellectual disability syndromic and non-syndromic v0.2391 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2391 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 20382551
Intellectual disability syndromic and non-syndromic v0.2390 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Intellectual disability syndromic and non-syndromic v0.2389 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2389 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2388 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20382551; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2388 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2388 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2387 NDUFB3 Zornitza Stark changed review comment from: Ten families and functional data.; to: Ten families and functional data. In particular, the 8 families of shared Irish ancestry only had short stature and dysmorphic features, without marked metabolic disturbance. One of the other reported individuals died in infancy, again making it difficult to know whether ID would have been part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.2387 NDUFB3 Zornitza Stark edited their review of gene: NDUFB3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2387 NDUFAF6 Zornitza Stark Classified gene: NDUFAF6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2387 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF6 Zornitza Stark changed review comment from: Multiple unrelated families reported.; to: Multiple unrelated families reported. Presentation in one family was with lactic acidosis in newborn period, and in another with regression in childhood. Limited phenotypic information for others. Unclear if and in what proportion of affected individuals ID is likely to be the main or presenting feature.
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF6 Zornitza Stark edited their review of gene: NDUFAF6: Changed rating: AMBER; Changed publications: 26741492, 18614015, 27623250
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2386 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238
Intellectual disability syndromic and non-syndromic v0.2385 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Intellectual disability syndromic and non-syndromic v0.2384 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2383 NDUFAF5 Zornitza Stark Classified gene: NDUFAF5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2383 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2382 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: None; Publications: 19542079, 21607760, 18940309; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2382 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2382 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF4 Zornitza Stark changed review comment from: Two unrelated families and functional data.; to: Two unrelated families and functional data. Multiple affected individuals in one family (18179882) presented in newborn period with marked lactic acidosis, one long-term survivor (7yo at assessment) had profound ID. Individual from second family (28853723) presented in infancy with dev delay. Borderline gene-disease association for mitochondrial disease, and unclear what proportion of individuals are likely to present/manifest as ID.
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF4 Zornitza Stark edited their review of gene: NDUFAF4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2381 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF3 Zornitza Stark changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, severe neonatal presentation with lactic acidosis, seizures, and need for respiratory support. ID is unlikely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF3 Zornitza Stark edited their review of gene: NDUFAF3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2380 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark changed review comment from: At least four unrelated families reported.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed publications: 20571988
Intellectual disability syndromic and non-syndromic v0.2379 NDUFAF1 Zornitza Stark changed review comment from: Three unrelated families described, DD/ID part of the phenotype.; to: Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM.
Intellectual disability syndromic and non-syndromic v0.2379 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2379 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA9 Zornitza Stark changed review comment from: Two unrelated families and functional data. Broad spectrum, likely to include ID.; to: Two unrelated families and functional data. Broad spectrum, likely to include ID but that is yet to be established.
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA9 Zornitza Stark edited their review of gene: NDUFA9: Changed rating: AMBER
Mendeliome v0.1627 GNRHR Kristin Rigbye reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28348023, 9371856; Phenotypes: Hypogonadotropic hypogonadism 7 without anosmia, 146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1627 TBR1 Melanie Marty reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA10 Zornitza Stark Classified gene: NDUFA10 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2378 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2377 NDUFA10 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.2377 NDUFA10 Zornitza Stark edited their review of gene: NDUFA10: Added comment: Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).; Changed rating: AMBER
Mendeliome v0.1627 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Mendeliome v0.1627 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Mendeliome v0.1627 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from to Congenital myasthenic syndrome 24, presynaptic, MIM# 618198
Mendeliome v0.1626 MYO9A Zornitza Stark Publications for gene: MYO9A were set to
Mendeliome v0.1625 MYO9A Zornitza Stark Mode of inheritance for gene: MYO9A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1624 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26752647, 27259756; Phenotypes: Congenital myasthenic syndrome 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.20 MYO9A Zornitza Stark Publications for gene: MYO9A were set to 6752647; 27259756
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome 24, presynaptic 618198 to Congenital myasthenic syndrome 24, presynaptic 618198
Congenital Myasthenia v0.18 MYO9A Zornitza Stark Publications for gene: MYO9A were set to
Genetic Epilepsy v0.627 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Genetic Epilepsy v0.627 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.627 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from to Intellectual disability, autosomal dominant 5, MIM # 612621
Genetic Epilepsy v0.626 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Genetic Epilepsy v0.625 SYNGAP1 Zornitza Stark Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.624 SYNGAP1 Zornitza Stark reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26079862; Phenotypes: Intellectual disability, autosomal dominant 5, MIM # 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2377 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.2377 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2377 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from to Intellectual disability, autosomal dominant 5 (MIM # 612621)
Intellectual disability syndromic and non-syndromic v0.2376 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Intellectual disability syndromic and non-syndromic v0.2375 SYNGAP1 Zornitza Stark Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Marked gene: NBN as ready
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Gene: nbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2374 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260
Intellectual disability syndromic and non-syndromic v0.2373 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2372 NBN Zornitza Stark Classified gene: NBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2372 NBN Zornitza Stark Gene: nbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2371 NBN Zornitza Stark reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2371 SYNGAP1 Ain Roesley reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079862; Phenotypes: Intellectual disability, autosomal dominant 5 (MIM # 612621); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Vitreoretinopathy v0.1 BEST1 Zornitza Stark Marked gene: BEST1 as ready
Vitreoretinopathy v0.1 BEST1 Zornitza Stark Gene: best1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stickler Syndrome v0.1 LOXL3 Zornitza Stark Marked gene: LOXL3 as ready
Stickler Syndrome v0.1 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Stickler Syndrome v0.1 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Stickler Syndrome v0.1 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Stickler Syndrome v0.0 LOXL3 Alison Yeung gene: LOXL3 was added
gene: LOXL3 was added to Stickler Syndrome. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 30362103; 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Vitreoretinopathy v0.0 ZNF408 Alison Yeung gene: ZNF408 was added
gene: ZNF408 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF408 was set to Unknown
Vitreoretinopathy v0.0 VCAN Alison Yeung gene: VCAN was added
gene: VCAN was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VCAN was set to Unknown
Vitreoretinopathy v0.0 TSPAN12 Alison Yeung gene: TSPAN12 was added
gene: TSPAN12 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPAN12 was set to Unknown
Vitreoretinopathy v0.0 NR2E3 Alison Yeung gene: NR2E3 was added
gene: NR2E3 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2E3 was set to Unknown
Vitreoretinopathy v0.0 NDP Alison Yeung gene: NDP was added
gene: NDP was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDP was set to Unknown
Vitreoretinopathy v0.0 LRP5 Alison Yeung gene: LRP5 was added
gene: LRP5 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP5 was set to Unknown
Vitreoretinopathy v0.0 KIF11 Alison Yeung gene: KIF11 was added
gene: KIF11 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF11 was set to Unknown
Vitreoretinopathy v0.0 KCNJ13 Alison Yeung gene: KCNJ13 was added
gene: KCNJ13 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ13 was set to Unknown
Stickler Syndrome v0.0 GZF1 Alison Yeung gene: GZF1 was added
gene: GZF1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GZF1 was set to Unknown
Vitreoretinopathy v0.0 FZD4 Alison Yeung gene: FZD4 was added
gene: FZD4 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FZD4 was set to Unknown
Vitreoretinopathy v0.0 CTNNB1 Alison Yeung gene: CTNNB1 was added
gene: CTNNB1 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNNB1 was set to Unknown
Stickler Syndrome v0.0 COL9A3 Alison Yeung gene: COL9A3 was added
gene: COL9A3 was added to Stickler Syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A3 were set to 31090205; 30450842; 20301479; 24273071
Phenotypes for gene: COL9A3 were set to sensorineural hearing loss; midface hypoplasia; Stickler syndrome; myopia
Stickler Syndrome v0.0 COL9A2 Alison Yeung gene: COL9A2 was added
gene: COL9A2 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A2 was set to Unknown
Stickler Syndrome v0.0 COL9A1 Alison Yeung gene: COL9A1 was added
gene: COL9A1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A1 was set to Unknown
Stickler Syndrome v0.0 COL2A1 Alison Yeung gene: COL2A1 was added
gene: COL2A1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL2A1 was set to Unknown
Vitreoretinopathy v0.0 COL18A1 Alison Yeung gene: COL18A1 was added
gene: COL18A1 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL18A1 was set to Unknown
Stickler Syndrome v0.0 COL11A2 Alison Yeung gene: COL11A2 was added
gene: COL11A2 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A2 was set to Unknown
Stickler Syndrome v0.0 COL11A1 Alison Yeung gene: COL11A1 was added
gene: COL11A1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A1 was set to Unknown
Vitreoretinopathy v0.0 CAPN5 Alison Yeung gene: CAPN5 was added
gene: CAPN5 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAPN5 was set to Unknown
Vitreoretinopathy v0.0 BEST1 Alison Yeung gene: BEST1 was added
gene: BEST1 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BEST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BEST1 were set to Vitreoretinochoroidopathy, MIM# 193220
Vitreoretinopathy v0.0 ATOH7 Alison Yeung gene: ATOH7 was added
gene: ATOH7 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATOH7 was set to Unknown
Stickler Syndrome v0.0 Alison Yeung Added panel Stickler Syndrome
Vitreoretinopathy v0.0 Alison Yeung Added panel Vitreoretinopathy
Mendeliome v0.1624 ZDHHC15 Zornitza Stark Marked gene: ZDHHC15 as ready
Mendeliome v0.1624 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Mendeliome v0.1624 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from to Mental retardation, X-linked 91, 300577
Mendeliome v0.1623 ZDHHC15 Zornitza Stark Mode of inheritance for gene: ZDHHC15 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1622 ZDHHC15 Zornitza Stark Classified gene: ZDHHC15 as Red List (low evidence)
Mendeliome v0.1622 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Mendeliome v0.1621 ZDHHC15 Zornitza Stark reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 91, 300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2371 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Intellectual disability syndromic and non-syndromic v0.2371 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2371 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2; OMIM # 614069
Intellectual disability syndromic and non-syndromic v0.2370 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Intellectual disability syndromic and non-syndromic v0.2369 ZBTB24 Zornitza Stark Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1621 ZBTB16 Zornitza Stark Marked gene: ZBTB16 as ready
Mendeliome v0.1621 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1621 ZBTB16 Zornitza Stark Phenotypes for gene: ZBTB16 were changed from to Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447
Mendeliome v0.1620 ZBTB16 Zornitza Stark Publications for gene: ZBTB16 were set to
Mendeliome v0.1619 ZBTB16 Zornitza Stark Mode of inheritance for gene: ZBTB16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1618 ZBTB16 Zornitza Stark Classified gene: ZBTB16 as Amber List (moderate evidence)
Mendeliome v0.1618 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1617 ZBTB16 Zornitza Stark reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: None; Publications: 18611983; Phenotypes: Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Marked gene: ZBTB16 as ready
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2368 ZBTB16 Zornitza Stark Phenotypes for gene: ZBTB16 were changed from to Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447
Intellectual disability syndromic and non-syndromic v0.2367 ZBTB16 Zornitza Stark Publications for gene: ZBTB16 were set to
Intellectual disability syndromic and non-syndromic v0.2366 ZBTB16 Zornitza Stark Mode of inheritance for gene: ZBTB16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1617 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Mendeliome v0.1617 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1617 ZBTB11 Zornitza Stark Phenotypes for gene: ZBTB11 were changed from to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383
Mendeliome v0.1616 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to
Mendeliome v0.1615 ZBTB11 Zornitza Stark Mode of inheritance for gene: ZBTB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1614 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Amber List (moderate evidence)
Mendeliome v0.1614 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1613 ZBTB11 Zornitza Stark reviewed gene: ZBTB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 29893856; Phenotypes: Intellectual developmental disorder, autosomal recessive 69, OMIM #618383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2365 ZBTB11 Zornitza Stark Phenotypes for gene: ZBTB11 were changed from to Intellectual developmental disorder, autosomal recessive 69; OMIM #618383
Intellectual disability syndromic and non-syndromic v0.2364 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to
Intellectual disability syndromic and non-syndromic v0.2363 ZBTB11 Zornitza Stark Mode of inheritance for gene: ZBTB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.49 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.48 YAP1 Zornitza Stark edited their review of gene: YAP1: Added comment: Four families reported; incomplete penetrance and variable expressivity.; Changed publications: 24462371, 27267789, 28801591
Intellectual disability syndromic and non-syndromic v0.2362 XPA Zornitza Stark Publications for gene: XPA were set to
Intellectual disability syndromic and non-syndromic v0.2361 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26302748, 25566891, 24135642; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2361 WNT5A Zornitza Stark reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17256787; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1613 WNT3 Zornitza Stark Marked gene: WNT3 as ready
Mendeliome v0.1613 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Mendeliome v0.1613 WNT3 Zornitza Stark Phenotypes for gene: WNT3 were changed from to Tetra-amelia syndrome 1, MIM# 273395
Mendeliome v0.1612 WNT3 Zornitza Stark Publications for gene: WNT3 were set to
Mendeliome v0.1611 WNT3 Zornitza Stark Mode of inheritance for gene: WNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1610 WNT3 Zornitza Stark Classified gene: WNT3 as Red List (low evidence)
Mendeliome v0.1610 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Mendeliome v0.1609 WNT3 Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 1, MIM# 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.100 WNT3 Zornitza Stark Marked gene: WNT3 as ready
Callosome v0.100 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Callosome v0.100 WNT3 Zornitza Stark Phenotypes for gene: WNT3 were changed from to Tetra-amelia syndrome 1, MIM# 273395
Callosome v0.99 WNT3 Zornitza Stark Publications for gene: WNT3 were set to
Callosome v0.98 WNT3 Zornitza Stark Mode of inheritance for gene: WNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.97 WNT3 Zornitza Stark Classified gene: WNT3 as Red List (low evidence)
Callosome v0.97 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Callosome v0.96 WNT3 Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 1, MIM# 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2361 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296
Intellectual disability syndromic and non-syndromic v0.2360 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2359 WFS1 Zornitza Stark Classified gene: WFS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2359 WFS1 Zornitza Stark Gene: wfs1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2358 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, MIM# 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.17 MYO9A Ain Roesley reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26752647, 27259756; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2358 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Intellectual disability syndromic and non-syndromic v0.2358 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2358 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967
Intellectual disability syndromic and non-syndromic v0.2357 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Intellectual disability syndromic and non-syndromic v0.2356 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Marked gene: WDR4 as ready
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green rating: three families but two have the same homozygous variant; some functional data to support gene-disease association.
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Regression v0.85 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Regression v0.85 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Regression v0.85 SPG11 Zornitza Stark Classified gene: SPG11 as Green List (high evidence)
Regression v0.85 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Regression v0.84 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099
Review for gene: SPG11 was set to GREEN
gene: SPG11 was marked as current diagnostic
Added comment: Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Marked gene: WDR4 as ready
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2355 WDR4 Zornitza Stark Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965
Mendeliome v0.1609 RS1 Zornitza Stark Marked gene: RS1 as ready
Mendeliome v0.1609 RS1 Zornitza Stark Gene: rs1 has been classified as Green List (High Evidence).
Mendeliome v0.1609 RS1 Zornitza Stark Phenotypes for gene: RS1 were changed from to Retinoschisis, MIM#312700
Mendeliome v0.1608 RS1 Zornitza Stark Publications for gene: RS1 were set to
Mendeliome v0.1607 RS1 Zornitza Stark Mode of inheritance for gene: RS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Hypertrichosis syndromes v0.8 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Hypertrichosis syndromes v0.7 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.6 SMC1A Zornitza Stark reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1606 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Mendeliome v0.1606 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Mendeliome v0.1606 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Mendeliome v0.1605 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Mendeliome v0.1604 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Marked gene: AIRE as ready
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Disorders of immune dysregulation v0.22 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.21 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1603 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Mendeliome v0.1603 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1603 AIRE Zornitza Stark Marked gene: AIRE as ready
Mendeliome v0.1603 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Mendeliome v0.1603 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Mendeliome v0.1602 AIRE Zornitza Stark Mode of pathogenicity for gene: AIRE was changed from to Other
Mendeliome v0.1601 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1600 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1599 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from to Deafness, autosomal recessive 77, MIM# 613079
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1598 LOXHD1 Zornitza Stark Publications for gene: LOXHD1 were set to
Mendeliome v0.1597 LOXHD1 Zornitza Stark Mode of inheritance for gene: LOXHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.328 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from to Deafness, autosomal recessive 77, MIM# 613079
Mendeliome v0.1596 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867, 25792669; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.327 LOXHD1 Zornitza Stark Publications for gene: LOXHD1 were set to
Deafness_IsolatedAndComplex v0.326 LOXHD1 Zornitza Stark Mode of inheritance for gene: LOXHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1596 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Mendeliome v0.1596 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Mendeliome v0.1596 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to ?Cataract 41; Deafness, autosomal dominant 6/14/38; Wolfram syndrome, autosomal recessive 1; Wolfram-like syndrome, autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}
Mendeliome v0.1595 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Mendeliome v0.1594 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146)
Arthrogryposis v0.24 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Arthrogryposis v0.23 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1593 ING3 Zornitza Stark Marked gene: ING3 as ready
Mendeliome v0.1593 ING3 Zornitza Stark Gene: ing3 has been classified as Red List (Low Evidence).
Mendeliome v0.1593 ING3 Zornitza Stark Classified gene: ING3 as Red List (low evidence)
Mendeliome v0.1593 ING3 Zornitza Stark Gene: ing3 has been classified as Red List (Low Evidence).
Mendeliome v0.1592 ING3 Zornitza Stark reviewed gene: ING3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1592 SYN3 Zornitza Stark Marked gene: SYN3 as ready
Mendeliome v0.1592 SYN3 Zornitza Stark Gene: syn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1592 SYN3 Zornitza Stark Classified gene: SYN3 as Red List (low evidence)
Mendeliome v0.1592 SYN3 Zornitza Stark Gene: syn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1591 SYN3 Zornitza Stark reviewed gene: SYN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1591 SIM1 Zornitza Stark Marked gene: SIM1 as ready
Mendeliome v0.1591 SIM1 Zornitza Stark Gene: sim1 has been classified as Red List (Low Evidence).
Mendeliome v0.1591 SIM1 Zornitza Stark Classified gene: SIM1 as Red List (low evidence)
Mendeliome v0.1591 SIM1 Zornitza Stark Gene: sim1 has been classified as Red List (Low Evidence).
Mendeliome v0.1590 SIM1 Zornitza Stark reviewed gene: SIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1590 RS1 Kristin Rigbye reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15932525, 23453514, 23847049; Phenotypes: Retinoschisis, 312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1590 SMC1A Melanie Marty reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v0.325 LOXHD1 Melanie Marty edited their review of gene: LOXHD1: Changed publications: 19732867, 25792669
Mendeliome v0.1590 AIRE Teresa Zhao reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.325 LOXHD1 Melanie Marty reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867; Phenotypes: Deafness, autosomal recessive 77 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1590 WFS1 Teresa Zhao reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25211237; Phenotypes: ?Cataract 41, Deafness, autosomal dominant 6/14/38, Wolfram syndrome 1, Wolfram-like syndrome, autosomal dominant, {Diabetes mellitus, noninsulin-dependent, association with}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis v0.22 PIEZO2 Ain Roesley reviewed gene: PIEZO2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30941898; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.43 Zornitza Stark removed gene:TCIRG1 from the panel
Genetic Epilepsy v0.624 VARS Zornitza Stark Marked gene: VARS as ready
Genetic Epilepsy v0.624 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Mendeliome v0.1590 VARS Zornitza Stark Publications for gene: VARS were set to
Mendeliome v0.1589 VARS Zornitza Stark Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.624 VARS Zornitza Stark Phenotypes for gene: VARS were changed from to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Marked gene: VARS as ready
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.623 VARS Zornitza Stark Publications for gene: VARS were set to
Mendeliome v0.1588 VARS Zornitza Stark reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.622 VARS Zornitza Stark Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2354 VARS Zornitza Stark Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004
Genetic Epilepsy v0.621 VARS Zornitza Stark reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Gene: krt6a has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.5 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)
Palmoplantar Keratoderma and Erythrokeratoderma v0.4 KRT6A Zornitza Stark Publications for gene: KRT6A were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.3 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from to Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.2 KRT6A Zornitza Stark Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1588 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Mendeliome v0.1588 KRT6A Zornitza Stark Gene: krt6a has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.1 KRT6A Zornitza Stark reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1588 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from Other to Other
Mendeliome v0.1587 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)
Mendeliome v0.1586 KRT6A Zornitza Stark Publications for gene: KRT6A were set to
Mendeliome v0.1585 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from to Other
Mendeliome v0.1584 KRT6A Zornitza Stark Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.22 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Arthrogryposis v0.22 BICD2 Zornitza Stark Added comment: Comment when marking as ready: Arthrogryposis is a feature in some affected individuals.
Arthrogryposis v0.22 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v0.22 BICD2 Zornitza Stark Classified gene: BICD2 as Green List (high evidence)
Arthrogryposis v0.22 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v0.21 BICD2 Elena Savva gene: BICD2 was added
gene: BICD2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to PMID: 28635954; 27751653
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Penetrance for gene: BICD2 were set to Incomplete
Review for gene: BICD2 was set to GREEN
Added comment: OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD

Requested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2353 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572
Intellectual disability syndromic and non-syndromic v0.2352 TXNL4A Zornitza Stark Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2351 TXNL4A Zornitza Stark Classified gene: TXNL4A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2351 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2350 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2350 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2349 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Review for gene: TUBGCP4 was set to AMBER
Added comment: Three unrelated families reported; ID described as mild.
Sources: Expert list
Callosome v0.96 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Callosome v0.96 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Callosome v0.96 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Callosome v0.95 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Callosome v0.94 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.93 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Callosome v0.93 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Callosome v0.92 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.621 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to 31481326; 19896110
Genetic Epilepsy v0.620 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Genetic Epilepsy v0.620 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.619 TUBA8 Zornitza Stark edited their review of gene: TUBA8: Added comment: However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; Changed rating: RED; Changed publications: 31481326, 19896110, 28388629
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.19 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Mendeliome v0.1583 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Mendeliome v0.1583 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Mendeliome v0.1583 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Mendeliome v0.1582 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Mendeliome v0.1581 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.18 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Mendeliome v0.1580 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Mendeliome v0.1580 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.17 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.16 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.16 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Mendeliome v0.1579 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.15 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.6 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Tubulinopathies v0.6 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.6 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Polymicrogyria and Schizencephaly v0.30 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Polymicrogyria and Schizencephaly v0.29 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Polymicrogyria and Schizencephaly v0.28 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.5 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Tubulinopathies v0.4 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.3 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Tubulinopathies v0.3 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Tubulinopathies v0.2 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.27 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.27 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.26 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2348 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Intellectual disability syndromic and non-syndromic v0.2347 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Intellectual disability syndromic and non-syndromic v0.2346 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2345 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2345 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2344 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2344 TSHR Zornitza Stark Marked gene: TSHR as ready
Intellectual disability syndromic and non-syndromic v0.2344 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2344 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from to Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200
Intellectual disability syndromic and non-syndromic v0.2343 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2342 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2341 TSHR Zornitza Stark Classified gene: TSHR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2341 TSHR Zornitza Stark Gene: tshr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2340 TSHR Zornitza Stark reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Classified gene: TSEN15 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2340 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2339 TSEN15 Zornitza Stark gene: TSEN15 was added
gene: TSEN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077; 30914295; 25558065
Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F, 617026
Review for gene: TSEN15 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Classified gene: VPS45 as Green List (high evidence)
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.40 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS45 were set to 23599270; 23738510
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Review for gene: VPS45 was set to GREEN
gene: VPS45 was marked as current diagnostic
Added comment: Same homozygous missense variant, p.Thr224Asn, identified in 6 Middle Eastern families. A different variant, p.Glu238Lys, identified in another family. Zebrafish model.
Sources: Expert list
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Classified gene: TCIRG1 as Green List (high evidence)
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.38 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700
Review for gene: TCIRG1 was set to GREEN
gene: TCIRG1 was marked as current diagnostic
Added comment: Pancytopaenia is a presenting feature.
Sources: Expert list
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.8 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Radial Ray Abnormalities v0.7 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Radial Ray Abnormalities v0.6 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.5 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Radial Ray Abnormalities v0.5 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.4 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1579 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Mendeliome v0.1579 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Mendeliome v0.1579 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Mendeliome v0.1578 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Mendeliome v0.1577 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1576 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Mendeliome v0.1576 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Mendeliome v0.1575 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.5 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Diamond Blackfan anaemia v0.4 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Diamond Blackfan anaemia v0.3 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.2 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Diamond Blackfan anaemia v0.2 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.1 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.37 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Bone Marrow Failure v0.37 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.37 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900
Review for gene: RPL26 was set to RED
Added comment: Single reported individual.
Sources: Expert list
Mendeliome v0.1575 KRT6A Crystle Lee reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.35 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
Review for gene: RPL15 was set to GREEN
gene: RPL15 was marked as current diagnostic
Added comment: 7 unrelated individuals reported to date.
Sources: Expert list
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Classified gene: JAGN1 as Green List (high evidence)
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.33 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAGN1 were set to 25129144
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Review for gene: JAGN1 was set to GREEN
gene: JAGN1 was marked as current diagnostic
Added comment: Fourteen individuals from 9 families reported.
Sources: Expert list
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Classified gene: ETV6 as Green List (high evidence)
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.31 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25581430; 25807284
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
Review for gene: ETV6 was set to GREEN
gene: ETV6 was marked as current diagnostic
Added comment: At least 6 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Classified gene: CSF3R as Green List (high evidence)
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Bone Marrow Failure v0.29 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF3R were set to 24753537; 26324699
Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014
Review for gene: CSF3R was set to GREEN
gene: CSF3R was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.1575 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Mendeliome v0.1575 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.1575 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum (MIM# 264800) to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850
Mendeliome v0.1574 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum (MIM# 264800)
Mendeliome v0.1573 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to
Mendeliome v0.1572 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1571 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Syndromic SCID; dysmorphism; ear abnormalities; Otofaciocervical syndrome 2, MIM# 615560
Severe Combined Immunodeficiency v0.8 PAX1 Zornitza Stark Classified gene: PAX1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.8 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.7 PAX1 Zornitza Stark gene: PAX1 was added
gene: PAX1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 32111619
Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome
Review for gene: PAX1 was set to GREEN
Added comment: 6 individuals from three unrelated families.
Sources: Literature
Mendeliome v0.1570 ABCC6 Ain Roesley reviewed gene: ABCC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 11536079; Phenotypes: Pseudoxanthoma elasticum (MIM# 264800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2338 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Intellectual disability syndromic and non-syndromic v0.2338 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2338 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Intellectual disability syndromic and non-syndromic v0.2337 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Intellectual disability syndromic and non-syndromic v0.2336 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2335 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2335 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2334 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1570 TRIM8 Zornitza Stark Marked gene: TRIM8 as ready
Mendeliome v0.1570 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Mendeliome v0.1570 TRIM8 Zornitza Stark Phenotypes for gene: TRIM8 were changed from to Intellectual disability; Seizures
Mendeliome v0.1569 TRIM8 Zornitza Stark Publications for gene: TRIM8 were set to
Mendeliome v0.1568 TRIM8 Zornitza Stark Mode of inheritance for gene: TRIM8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1567 TRIM8 Zornitza Stark reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.619 TRIM8 Zornitza Stark Marked gene: TRIM8 as ready
Genetic Epilepsy v0.619 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.619 TRIM8 Zornitza Stark Phenotypes for gene: TRIM8 were changed from to Intellectual disability; Seizures
Genetic Epilepsy v0.618 TRIM8 Zornitza Stark Publications for gene: TRIM8 were set to
Genetic Epilepsy v0.617 TRIM8 Zornitza Stark Mode of inheritance for gene: TRIM8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.616 TRIM8 Zornitza Stark reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark changed review comment from: Six unrelated individuals reported.
Sources: Expert list; to: Six unrelated individuals reported. All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Marked gene: TRIM8 as ready
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Classified gene: TRIM8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2334 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2333 TRIM8 Zornitza Stark gene: TRIM8 was added
gene: TRIM8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Phenotypes for gene: TRIM8 were set to Intellectual disability; Seizures
Review for gene: TRIM8 was set to GREEN
gene: TRIM8 was marked as current diagnostic
Added comment: Six unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.616 TRAK1 Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2332 TRAK1 Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Intellectual disability syndromic and non-syndromic v0.2331 TRAK1 Zornitza Stark Publications for gene: TRAK1 were set to
Intellectual disability syndromic and non-syndromic v0.2330 TRAK1 Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2329 TRAK1 Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Classified gene: TRAIP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2329 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2328 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAIP were set to Seckel syndrome 9, MIM#616777
Review for gene: TRAIP was set to GREEN
gene: TRAIP was marked as current diagnostic
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Gene: tpk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2327 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Intellectual disability syndromic and non-syndromic v0.2326 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2325 TPK1 Zornitza Stark Classified gene: TPK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2325 TPK1 Zornitza Stark Gene: tpk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2324 TPK1 Zornitza Stark reviewed gene: TPK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1567 TPH2 Zornitza Stark Marked gene: TPH2 as ready
Mendeliome v0.1567 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Mendeliome v0.1567 TPH2 Zornitza Stark Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003
Mendeliome v0.1566 TPH2 Zornitza Stark Publications for gene: TPH2 were set to
Intellectual disability syndromic and non-syndromic v0.2324 TPH2 Zornitza Stark Marked gene: TPH2 as ready
Intellectual disability syndromic and non-syndromic v0.2324 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Mendeliome v0.1565 TPH2 Zornitza Stark Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1564 TPH2 Zornitza Stark Classified gene: TPH2 as Red List (low evidence)
Mendeliome v0.1564 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2324 TPH2 Zornitza Stark Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003
Intellectual disability syndromic and non-syndromic v0.2323 TPH2 Zornitza Stark Publications for gene: TPH2 were set to
Mendeliome v0.1563 TPH2 Zornitza Stark reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2322 TPH2 Zornitza Stark Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2321 TPH2 Zornitza Stark Classified gene: TPH2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2321 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2320 TPH2 Zornitza Stark reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1563 SPOP Zornitza Stark Marked gene: SPOP as ready
Mendeliome v0.1563 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Mendeliome v0.1563 SPOP Zornitza Stark Classified gene: SPOP as Green List (high evidence)
Mendeliome v0.1563 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Mendeliome v0.1562 SPOP Zornitza Stark gene: SPOP was added
gene: SPOP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly
Mode of pathogenicity for gene: SPOP was set to Other
Review for gene: SPOP was set to GREEN
Added comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Marked gene: SPOP as ready
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Classified gene: SPOP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2320 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2319 SPOP Zornitza Stark gene: SPOP was added
gene: SPOP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly
Mode of pathogenicity for gene: SPOP was set to Other
Review for gene: SPOP was set to GREEN
Added comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly.
Sources: Literature
Mendeliome v0.1561 TNIK Zornitza Stark Marked gene: TNIK as ready
Mendeliome v0.1561 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1561 TNIK Zornitza Stark Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028
Mendeliome v0.1560 TNIK Zornitza Stark Publications for gene: TNIK were set to
Mendeliome v0.1559 TNIK Zornitza Stark Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1558 TNIK Zornitza Stark Classified gene: TNIK as Amber List (moderate evidence)
Mendeliome v0.1558 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1557 TNIK Zornitza Stark reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2318 TNIK Zornitza Stark Marked gene: TNIK as ready
Intellectual disability syndromic and non-syndromic v0.2318 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2318 TNIK Zornitza Stark Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028
Intellectual disability syndromic and non-syndromic v0.2317 TNIK Zornitza Stark Publications for gene: TNIK were set to
Intellectual disability syndromic and non-syndromic v0.2316 TNIK Zornitza Stark Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2315 TNIK Zornitza Stark Classified gene: TNIK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2315 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2314 TNIK Zornitza Stark reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.71 TMLHE Zornitza Stark Classified gene: TMLHE as Green List (high evidence)
Autism v0.71 TMLHE Zornitza Stark Gene: tmlhe has been classified as Green List (High Evidence).
Autism v0.70 TMLHE Zornitza Stark gene: TMLHE was added
gene: TMLHE was added to Autism. Sources: Expert list
Mode of inheritance for gene: TMLHE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TMLHE were set to 21865298
Phenotypes for gene: TMLHE were set to {Autism, susceptibility to, X-linked 6}, MIM#300872
Review for gene: TMLHE was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2314 TMLHE Zornitza Stark Marked gene: TMLHE as ready
Intellectual disability syndromic and non-syndromic v0.2314 TMLHE Zornitza Stark Gene: tmlhe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2314 TMLHE Zornitza Stark Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6} 300872
Mendeliome v0.1557 TMLHE Zornitza Stark Marked gene: TMLHE as ready
Mendeliome v0.1557 TMLHE Zornitza Stark Gene: tmlhe has been classified as Green List (High Evidence).
Mendeliome v0.1557 TMLHE Zornitza Stark Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6}, MIM#300872
Mendeliome v0.1556 TMLHE Zornitza Stark Publications for gene: TMLHE were set to
Mendeliome v0.1555 TMLHE Zornitza Stark Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2313 TMLHE Zornitza Stark Publications for gene: TMLHE were set to 21865298
Mendeliome v0.1554 TMLHE Zornitza Stark reviewed gene: TMLHE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6}, MIM#300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2313 TMLHE Zornitza Stark Publications for gene: TMLHE were set to
Intellectual disability syndromic and non-syndromic v0.2312 TMLHE Zornitza Stark Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2311 TMLHE Zornitza Stark Classified gene: TMLHE as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2311 TMLHE Zornitza Stark Gene: tmlhe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2310 TMLHE Zornitza Stark reviewed gene: TMLHE: Rating: AMBER; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6} 300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1554 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Mendeliome v0.1554 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Mendeliome v0.1554 TMEM94 Zornitza Stark Classified gene: TMEM94 as Green List (high evidence)
Mendeliome v0.1554 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Mendeliome v0.1553 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Classified gene: TMEM94 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2310 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2309 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families.
Sources: Expert list
Congenital Heart Defect v0.27 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Congenital Heart Defect v0.27 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.27 TMEM260 Zornitza Stark Classified gene: TMEM260 as Amber List (moderate evidence)
Congenital Heart Defect v0.27 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.26 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 28318500
Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478
Review for gene: TMEM260 was set to AMBER
Added comment: Two unrelated families with complex severe congenital heart disease.
Sources: Expert list
Mendeliome v0.1552 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Mendeliome v0.1552 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2308 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Intellectual disability syndromic and non-syndromic v0.2308 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Red List (Low Evidence).
Mendeliome v0.1552 TMEM260 Zornitza Stark Phenotypes for gene: TMEM260 were changed from to Structural heart defects and renal anomalies syndrome, MIM# 617478
Mendeliome v0.1551 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to
Intellectual disability syndromic and non-syndromic v0.2308 TMEM260 Zornitza Stark Phenotypes for gene: TMEM260 were changed from to Structural heart defects and renal anomalies syndrome, MIM# 617478
Mendeliome v0.1550 TMEM260 Zornitza Stark Mode of inheritance for gene: TMEM260 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1549 TMEM260 Zornitza Stark Classified gene: TMEM260 as Amber List (moderate evidence)
Mendeliome v0.1549 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1548 TMEM260 Zornitza Stark reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: 28318500; Phenotypes: Structural heart defects and renal anomalies syndrome, MIM# 617478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2307 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to
Intellectual disability syndromic and non-syndromic v0.2306 TMEM260 Zornitza Stark Mode of inheritance for gene: TMEM260 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2305 TMEM260 Zornitza Stark Classified gene: TMEM260 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2305 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2304 TMEM260 Zornitza Stark reviewed gene: TMEM260: Rating: RED; Mode of pathogenicity: None; Publications: 28318500; Phenotypes: Structural heart defects and renal anomalies syndrome, MIM# 617478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1548 TKT Zornitza Stark Marked gene: TKT as ready
Mendeliome v0.1548 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1548 TKT Zornitza Stark Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Mendeliome v0.1547 TKT Zornitza Stark Publications for gene: TKT were set to
Mendeliome v0.1546 TKT Zornitza Stark Mode of inheritance for gene: TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1545 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Mendeliome v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1544 TKT Zornitza Stark reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2304 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2304 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2303 TKT Zornitza Stark reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2303 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Intellectual disability syndromic and non-syndromic v0.2303 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2303 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Revesz syndrome, MIM# 268130
Intellectual disability syndromic and non-syndromic v0.2302 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Intellectual disability syndromic and non-syndromic v0.2301 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2300 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1404302, 18252230, 21477109; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Classified gene: TIMM50 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2300 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2299 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM50 were set to 27573165; 30190335; 31058414
Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX, MIM#617698
Review for gene: TIMM50 was set to GREEN
Added comment: Four unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: ID is not generally part of the phenotype but a couple of more severe presentations including ID reported.
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark edited their review of gene: THRB: Changed rating: AMBER; Changed publications: 22319036, 1682340
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Marked gene: THRB as ready
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2298 THRB Zornitza Stark Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, autosomal dominant, MIM# 188570
Intellectual disability syndromic and non-syndromic v0.2297 THRB Zornitza Stark Publications for gene: THRB were set to
Intellectual disability syndromic and non-syndromic v0.2296 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2295 THRB Zornitza Stark Classified gene: THRB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2295 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2294 THRB Zornitza Stark Classified gene: THRB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2294 THRB Zornitza Stark Gene: thrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2293 THRB Zornitza Stark reviewed gene: THRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, autosomal dominant, MIM# 188570; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.7 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.6 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2293 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2293 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2292 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2291 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18042801, 17785587; Phenotypes: Hoyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1544 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Mendeliome v0.1544 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Mendeliome v0.1544 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from to You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability
Mendeliome v0.1543 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Mendeliome v0.1542 TELO2 Zornitza Stark Mode of inheritance for gene: TELO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1541 TELO2 Zornitza Stark reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132593, 28944240; Phenotypes: You-Hoover-Fong syndrome, MIM#616954, Syndromic intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2291 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2290 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 27132593; 28944240
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability
Review for gene: TELO2 was set to GREEN
Added comment: Five unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Marked gene: TECR as ready
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2289 TECR Zornitza Stark Phenotypes for gene: TECR were changed from to Mental retardation, autosomal recessive, MIM#614020
Intellectual disability syndromic and non-syndromic v0.2288 TECR Zornitza Stark Publications for gene: TECR were set to
Mendeliome v0.1541 TECR Zornitza Stark Marked gene: TECR as ready
Mendeliome v0.1541 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Mendeliome v0.1541 TECR Zornitza Stark Phenotypes for gene: TECR were changed from to Mental retardation, autosomal recessive, MIM#614020
Mendeliome v0.1540 TECR Zornitza Stark Publications for gene: TECR were set to
Mendeliome v0.1539 TECR Zornitza Stark Mode of inheritance for gene: TECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1538 TECR Zornitza Stark Classified gene: TECR as Red List (low evidence)
Mendeliome v0.1538 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Mendeliome v0.1537 TECR Zornitza Stark reviewed gene: TECR: Rating: RED; Mode of pathogenicity: None; Publications: 21212097; Phenotypes: Mental retardation, autosomal recessive, MIM#614020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2287 TECR Zornitza Stark Mode of inheritance for gene: TECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2286 TECR Zornitza Stark Classified gene: TECR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2286 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2285 TECR Zornitza Stark reviewed gene: TECR: Rating: RED; Mode of pathogenicity: None; Publications: 21212097; Phenotypes: Mental retardation, autosomal recessive, MIM#614020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1537 TBC1D7 Zornitza Stark Marked gene: TBC1D7 as ready
Mendeliome v0.1537 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1537 TBC1D7 Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Mendeliome v0.1536 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to
Mendeliome v0.1535 TBC1D7 Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1534 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Mendeliome v0.1534 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1533 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.31 TBC1D7 Zornitza Stark Marked gene: TBC1D7 as ready
Macrocephaly_Megalencephaly v0.31 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.31 TBC1D7 Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Macrocephaly_Megalencephaly v0.30 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to
Macrocephaly_Megalencephaly v0.29 TBC1D7 Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.28 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.28 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.27 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2285 TBC1D7 Zornitza Stark Marked gene: TBC1D7 as ready
Intellectual disability syndromic and non-syndromic v0.2285 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2285 TBC1D7 Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Intellectual disability syndromic and non-syndromic v0.2284 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to
Intellectual disability syndromic and non-syndromic v0.2283 TBC1D7 Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2282 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2282 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2281 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2281 TASP1 Zornitza Stark changed review comment from: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature; to: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Microcephaly v0.89 TAF2 Zornitza Stark Marked gene: TAF2 as ready
Microcephaly v0.89 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.89 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Microcephaly v0.88 TAF2 Zornitza Stark Publications for gene: TAF2 were set to
Microcephaly v0.87 TAF2 Zornitza Stark Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.86 TAF2 Zornitza Stark Classified gene: TAF2 as Amber List (moderate evidence)
Microcephaly v0.86 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.85 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1533 TAF2 Zornitza Stark Marked gene: TAF2 as ready
Mendeliome v0.1533 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1533 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Mendeliome v0.1532 TAF2 Zornitza Stark Publications for gene: TAF2 were set to
Mendeliome v0.1531 TAF2 Zornitza Stark Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1530 TAF2 Zornitza Stark Classified gene: TAF2 as Amber List (moderate evidence)
Mendeliome v0.1530 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1529 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2281 TAF2 Zornitza Stark Marked gene: TAF2 as ready
Intellectual disability syndromic and non-syndromic v0.2281 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2281 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Intellectual disability syndromic and non-syndromic v0.2280 TAF2 Zornitza Stark Publications for gene: TAF2 were set to
Intellectual disability syndromic and non-syndromic v0.2279 TAF2 Zornitza Stark Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2278 TAF2 Zornitza Stark Classified gene: TAF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2278 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2277 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1529 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Mendeliome v0.1529 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1529 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from to Mental retardation, autosomal recessive 60, MIM# 617432
Mendeliome v0.1528 TAF13 Zornitza Stark Publications for gene: TAF13 were set to
Mendeliome v0.1527 TAF13 Zornitza Stark Mode of inheritance for gene: TAF13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2277 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Intellectual disability syndromic and non-syndromic v0.2277 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2277 TAF13 Zornitza Stark Publications for gene: TAF13 were set to
Intellectual disability syndromic and non-syndromic v0.2276 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from to Mental retardation, autosomal recessive 60, MIM# 617432
Mendeliome v0.1526 TAF13 Zornitza Stark Classified gene: TAF13 as Amber List (moderate evidence)
Mendeliome v0.1526 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1525 TAF13 Zornitza Stark reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257693; Phenotypes: Mental retardation, autosomal recessive 60, MIM# 617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2275 TAF13 Zornitza Stark Mode of inheritance for gene: TAF13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2274 TAF13 Zornitza Stark Classified gene: TAF13 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2274 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2273 TAF13 Zornitza Stark reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257693; Phenotypes: Mental retardation, autosomal recessive 60, MIM# 617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.108 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Mitochondrial disease v0.108 TACO1 Zornitza Stark Gene: taco1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.108 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110
Mitochondrial disease v0.107 TACO1 Zornitza Stark Publications for gene: TACO1 were set to
Mitochondrial disease v0.106 TACO1 Zornitza Stark Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.105 TACO1 Zornitza Stark reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19503089, 20727754, 25044680, 27319982; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.83 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Regression v0.83 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Regression v0.83 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Regression v0.82 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Regression v0.81 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.80 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Regression v0.80 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Regression v0.79 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1525 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Mendeliome v0.1525 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Mendeliome v0.1525 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Mendeliome v0.1524 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Mendeliome v0.1523 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1522 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Mendeliome v0.1522 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Mendeliome v0.1521 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2273 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2272 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Intellectual disability syndromic and non-syndromic v0.2271 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Intellectual disability syndromic and non-syndromic v0.2270 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2269 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2269 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2268 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2268 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from no OMIM number yet. to Imagawa-Matsumoto syndrome, MIM# 618786; Intellectual disability; Overgrowth
Intellectual disability syndromic and non-syndromic v0.2267 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 30019515, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786, Intellectual disability, Overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.72 SUFU Zornitza Stark Marked gene: SUFU as ready
Ciliopathies v0.72 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.72 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757
Ciliopathies v0.71 SUFU Zornitza Stark Publications for gene: SUFU were set to
Ciliopathies v0.70 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.69 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Ciliopathies v0.69 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.68 SUFU Zornitza Stark reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: Joubert syndrome 32, MIM#617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Marked gene: SUFU as ready
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.20 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757
Joubert syndrome and other neurological ciliopathies v0.19 SUFU Zornitza Stark Publications for gene: SUFU were set to
Joubert syndrome and other neurological ciliopathies v0.18 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.17 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.17 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.16 SUFU Zornitza Stark reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: Joubert syndrome 32, MIM#617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Marked gene: SUFU as ready
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2267 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2266 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUFU were set to 28965847
Phenotypes for gene: SUFU were set to Joubert syndrome 32, MIM#617757
Review for gene: SUFU was set to AMBER
Added comment: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2265 STX11 Zornitza Stark Marked gene: STX11 as ready
Intellectual disability syndromic and non-syndromic v0.2265 STX11 Zornitza Stark Gene: stx11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2265 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552
Intellectual disability syndromic and non-syndromic v0.2264 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2263 STX11 Zornitza Stark Classified gene: STX11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2263 STX11 Zornitza Stark Gene: stx11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2262 STX11 Zornitza Stark reviewed gene: STX11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2262 STT3A Zornitza Stark edited their review of gene: STT3A: Changed rating: GREEN; Changed publications: 23842455, 30701557, 28424003; Changed phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Marked gene: STRADA as ready
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Classified gene: STRADA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2262 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2261 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 17522105; 27170158; 28688840
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM# 611087
Review for gene: STRADA was set to GREEN
Added comment: Seven distantly related Menonite children plus four other unrelated families reported.
Sources: Expert list
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Polymicrogyria and Schizencephaly v0.25 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Polymicrogyria and Schizencephaly v0.24 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.23 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.23 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.22 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1521 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Mendeliome v0.1521 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Mendeliome v0.1521 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Mendeliome v0.1520 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Mendeliome v0.1519 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1518 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Mendeliome v0.1518 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Mendeliome v0.1517 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2260 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Intellectual disability syndromic and non-syndromic v0.2260 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2260 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Intellectual disability syndromic and non-syndromic v0.2259 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Intellectual disability syndromic and non-syndromic v0.2258 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2257 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2257 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2256 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Phenotypes for gene: SRP54 were changed from to Syndromic neutropenia with Shwachman-Diamond-like features
Bone Marrow Failure v0.27 SRP54 Zornitza Stark Publications for gene: SRP54 were set to
Bone Marrow Failure v0.26 SRP54 Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.25 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1517 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Mendeliome v0.1517 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Mendeliome v0.1517 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200
Mendeliome v0.1516 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Mendeliome v0.1515 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1514 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2256 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Intellectual disability syndromic and non-syndromic v0.2256 SPRTN Zornitza Stark Gene: sprtn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2256 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200
Intellectual disability syndromic and non-syndromic v0.2255 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Intellectual disability syndromic and non-syndromic v0.2254 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2253 SPRTN Zornitza Stark Classified gene: SPRTN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2253 SPRTN Zornitza Stark Gene: sprtn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2252 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Long QT Syndrome v0.5 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Long QT Syndrome v0.5 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Long QT Syndrome v0.5 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Long QT syndrome 3 (MIM#603830)
Long QT Syndrome v0.5 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29798782
Long QT Syndrome v0.4 SCN5A Zornitza Stark Publications for gene: SCN5A were set to
Long QT Syndrome v0.4 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1514 MC4R Zornitza Stark Marked gene: MC4R as ready
Mendeliome v0.1514 MC4R Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence).
Mendeliome v0.1514 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from to {Obesity, resistence to (BMIQ20)} 618306; Obesity (BMIQ20) 618406 AD, AR
Mendeliome v0.1513 MC4R Zornitza Stark Publications for gene: MC4R were set to
Mendeliome v0.1512 MC4R Zornitza Stark Mode of inheritance for gene: MC4R was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Hypertrichosis syndromes v0.5 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.4 KMT2A Zornitza Stark reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2252 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Intellectual disability syndromic and non-syndromic v0.2252 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2252 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Intellectual disability syndromic and non-syndromic v0.2251 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2250 KMT2A Zornitza Stark reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1511 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Mendeliome v0.1511 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Mendeliome v0.1511 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Mendeliome v0.1510 KMT2A Zornitza Stark Publications for gene: KMT2A were set to
Mendeliome v0.1509 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1508 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Mendeliome v0.1508 RBM20 Zornitza Stark Gene: rbm20 has been classified as Green List (High Evidence).
Mendeliome v0.1508 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD
Mendeliome v0.1507 RBM20 Zornitza Stark Publications for gene: RBM20 were set to
Mendeliome v0.1506 RBM20 Zornitza Stark Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1505 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Gene: rbm20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD
Dilated Cardiomyopathy v0.16 RBM20 Zornitza Stark Publications for gene: RBM20 were set to
Dilated Cardiomyopathy v0.15 RBM20 Zornitza Stark Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.9 SLC52A1 Zornitza Stark Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, MIM#615026
Motor Neurone Disease v0.8 SLC52A1 Zornitza Stark Publications for gene: SLC52A1 were set to
Motor Neurone Disease v0.7 SLC52A1 Zornitza Stark Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.6 SLC52A1 Zornitza Stark Classified gene: SLC52A1 as Red List (low evidence)
Motor Neurone Disease v0.6 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.5 SLC52A1 Zornitza Stark reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, MIM#615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1505 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Mendeliome v0.1505 SLC52A1 Zornitza Stark Added comment: Comment when marking as ready: Essentially only one family.
Mendeliome v0.1505 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1505 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Mendeliome v0.1505 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1505 SLC52A1 Zornitza Stark Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, 615026
Mendeliome v0.1504 SLC52A1 Zornitza Stark Publications for gene: SLC52A1 were set to
Mendeliome v0.1503 SLC52A1 Zornitza Stark Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1502 SLC52A1 Zornitza Stark Classified gene: SLC52A1 as Red List (low evidence)
Mendeliome v0.1502 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1501 PTCH2 Zornitza Stark reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, MIM#109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1501 PTCH2 Zornitza Stark Publications for gene: PTCH2 were set to 30820324
Macrocephaly_Megalencephaly v0.27 PTCH2 Zornitza Stark Marked gene: PTCH2 as ready
Macrocephaly_Megalencephaly v0.27 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.27 PTCH2 Zornitza Stark Phenotypes for gene: PTCH2 were changed from to Basal cell nevus syndrome, MIM#109400
Macrocephaly_Megalencephaly v0.26 PTCH2 Zornitza Stark Publications for gene: PTCH2 were set to
Macrocephaly_Megalencephaly v0.25 PTCH2 Zornitza Stark Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.24 PTCH2 Zornitza Stark Classified gene: PTCH2 as Red List (low evidence)
Macrocephaly_Megalencephaly v0.24 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.23 PTCH2 Zornitza Stark reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1500 PTCH2 Zornitza Stark Marked gene: PTCH2 as ready
Mendeliome v0.1500 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Mendeliome v0.1500 PTCH2 Zornitza Stark Phenotypes for gene: PTCH2 were changed from to Basal cell carcinoma, somatic 605462; Basal cell nevus syndrome, 109400; Medulloblastoma, somatic
Mendeliome v0.1499 PTCH2 Zornitza Stark Publications for gene: PTCH2 were set to
Mendeliome v0.1498 PTCH2 Zornitza Stark Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1497 PTCH2 Zornitza Stark Classified gene: PTCH2 as Red List (low evidence)
Mendeliome v0.1497 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Mendeliome v0.1496 ZNF592 Chern Lim changed review comment from: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly supportive of pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).; to: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).
Mendeliome v0.1496 ZNF592 Chern Lim reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1496 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Mendeliome v0.1496 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Mendeliome v0.1496 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia
Mendeliome v0.1495 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Mendeliome v0.1494 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1493 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Mendeliome v0.1493 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Mendeliome v0.1493 DNMT1 Zornitza Stark Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116
Mendeliome v0.1492 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to
Mendeliome v0.1491 DNMT1 Zornitza Stark Mode of inheritance for gene: DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia, 10, 610193; Cardiomyopathy, dilated, 1BB, 612877
Dilated Cardiomyopathy v0.13 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Dilated Cardiomyopathy v0.12 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673 to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Intellectual disability syndromic and non-syndromic v0.2250 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Intellectual disability syndromic and non-syndromic v0.2249 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Intellectual disability syndromic and non-syndromic v0.2248 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2247 CEP135 Zornitza Stark reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.85 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Microcephaly v0.85 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Microcephaly v0.85 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Microcephaly v0.84 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Microcephaly v0.83 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.82 CEP135 Zornitza Stark reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1490 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Mendeliome v0.1490 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Mendeliome v0.1490 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Mendeliome v0.1489 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Mendeliome v0.1488 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.11 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Differences of Sex Development v0.11 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.11 CYP21A2 Zornitza Stark Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Differences of Sex Development v0.10 CYP21A2 Zornitza Stark Mode of inheritance for gene: CYP21A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.9 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1487 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Mendeliome v0.1487 CYP21A2 Zornitza Stark Added comment: Comment when marking as ready: Beware pseudogene and structural variants make NGS data difficult to interpret.
Mendeliome v0.1487 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Mendeliome v0.1487 CYP21A2 Zornitza Stark Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Mendeliome v0.1486 CYP21A2 Zornitza Stark Tag SV/CNV tag was added to gene: CYP21A2.
Mendeliome v0.1486 CYP21A2 Zornitza Stark Mode of inheritance for gene: CYP21A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1485 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Mendeliome v0.1485 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Mendeliome v0.1485 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
Mendeliome v0.1484 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Mendeliome v0.1483 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1482 CDK13 Zornitza Stark reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2247 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Intellectual disability syndromic and non-syndromic v0.2246 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Intellectual disability syndromic and non-syndromic v0.2245 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2244 CDK13 Zornitza Stark reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.25 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Congenital Heart Defect v0.25 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.25 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Congenital Heart Defect v0.24 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Congenital Heart Defect v0.23 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Marked gene: F13B as ready
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.13 F13B Zornitza Stark Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, MIM#613235
Bleeding and Platelet Disorders v0.12 F13B Zornitza Stark Publications for gene: F13B were set to
Bleeding and Platelet Disorders v0.11 F13B Zornitza Stark Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.10 F13B Zornitza Stark reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1482 F13B Zornitza Stark Marked gene: F13B as ready
Mendeliome v0.1482 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Mendeliome v0.1482 F13B Zornitza Stark Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, 613235
Mendeliome v0.1481 F13B Zornitza Stark Publications for gene: F13B were set to
Mendeliome v0.1480 F13B Zornitza Stark Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1479 FMO3 Zornitza Stark changed review comment from: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase; to: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1479 FMO3 Zornitza Stark Marked gene: FMO3 as ready
Mendeliome v0.1479 FMO3 Zornitza Stark Added comment: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1479 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Mendeliome v0.1479 FMO3 Zornitza Stark Phenotypes for gene: FMO3 were changed from to Trimethylaminuria, MIM#602079
Mendeliome v0.1478 FMO3 Zornitza Stark Publications for gene: FMO3 were set to
Mendeliome v0.1477 FMO3 Zornitza Stark Mode of inheritance for gene: FMO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1476 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Mendeliome v0.1476 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Mendeliome v0.1476 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020
Mendeliome v0.1475 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Mendeliome v0.1474 PNPLA6 Zornitza Stark Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Long QT Syndrome v0.3 SCN5A Crystle Lee reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29798782; Phenotypes: Long QT syndrome 3 (MIM#603830); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1473 MC4R Michelle Torres reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 29970488; Phenotypes: {Obesity, resistence to (BMIQ20)} 618306, Obesity (BMIQ20) 618406 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1473 KMT2A Michelle Torres reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16990798; Phenotypes: Leukemia, myeloid/lymphoid or mixed-lineage 159555 AD, Wiedemann-Steiner syndrome 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy v0.11 RBM20 Michelle Torres reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1473 SLC52A1 Kristin Rigbye reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, 615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 SLC52A1 Kristin Rigbye Deleted their review
Mendeliome v0.1473 PTCH2 Kristin Rigbye reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324; Phenotypes: Basal cell carcinoma, somatic 605462, Basal cell nevus syndrome, 109400, Medulloblastoma, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 PTCH2 Kristin Rigbye Deleted their review
Mendeliome v0.1473 COL2A1 Elena Savva reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15895462, 17721977, 27234559, 20179744; Phenotypes: Achondrogenesis, type II or hypochondrogenesis 200610, Avascular necrosis of the femoral head 608805, Czech dysplasia 609162, Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Osteoarthritis with mild chondrodysplasia 604864, Platyspondylic skeletal dysplasia, Torrance type 151210, SED congenita 183900, SMED Strudwick type 184250, Spondyloepiphyseal dysplasia, Stanescu type 616583, Spondyloperipheral dysplasia 271700, Stickler sydrome, type I, nonsyndromic ocular 609508, Stickler syndrome, type I 108300, Vitreoretinopathy with phalangeal epiphyseal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1473 DNMT1 Elena Savva reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22328086, 21532572; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.11 DSG2 Kristin Rigbye reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23071725; Phenotypes: Arrhythmogenic right ventricular dysplasia, 10, 610193, Cardiomyopathy, dilated, 1BB, 612877; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 CEP135 Elena Savva Deleted their review
Mendeliome v0.1473 CEP135 Elena Savva Deleted their comment
Mendeliome v0.1473 CEP135 Elena Savva changed review comment from: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism; to: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: None
Mendeliome v0.1473 CYP21A2 Elena Savva reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.22 CDK13 Kristin Rigbye reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 F13B Elena Savva reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, 613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 FMO3 Elena Savva reviewed gene: FMO3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28649550, 31240165; Phenotypes: Trimethylaminuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 PNPLA6 Elena Savva reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25480986, 24355708; Phenotypes: Boucher-Neuhauser syndrome, 215470, ?Laurence-Moon syndrome, 245800, Oliver-McFarlane syndrome, 275400, Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2244 SPG7 Zornitza Stark Classified gene: SPG7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2244 SPG7 Zornitza Stark Gene: spg7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2243 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2243 SPAST Zornitza Stark Marked gene: SPAST as ready
Intellectual disability syndromic and non-syndromic v0.2243 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2243 SPAST Zornitza Stark Phenotypes for gene: SPAST were changed from to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Intellectual disability syndromic and non-syndromic v0.2242 SPAST Zornitza Stark Mode of inheritance for gene: SPAST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2241 SPAST Zornitza Stark Classified gene: SPAST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2241 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2240 SPAST Zornitza Stark reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, MIM# 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Classified gene: SOS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2240 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2239 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Noonan syndrome 9, MIM# 616559
Review for gene: SOS2 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1473 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Literature
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.25 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM# 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1472 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Mendeliome v0.1472 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mendeliome v0.1471 COX4I2 Zornitza Stark edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Marked gene: COX4I2 as ready
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Mitochondrial disease v0.104 COX4I2 Zornitza Stark Publications for gene: COX4I2 were set to
Mitochondrial disease v0.103 COX4I2 Zornitza Stark Mode of inheritance for gene: COX4I2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.102 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Mitochondrial disease v0.102 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.101 COX4I2 Zornitza Stark edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Sebastian Lunke Marked gene: RASA1 as ready
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Sebastian Lunke Gene: rasa1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2238 RASA1 Sebastian Lunke gene: RASA1 was added
gene: RASA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: RASA1 was set to RED
Added comment: GEL review red in 2018, no evidence for link with ID since
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2237 RAX Sebastian Lunke gene: RAX was added
gene: RAX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30762128; 24033328
Phenotypes for gene: RAX were set to MICROPHTHALMIA, ISOLATED 3; MCOP3
Review for gene: RAX was set to RED
Added comment: Only three cases described with intellectual disability in addition to microphthalmia, no new descriptions of ID association since 2014. Not clear if the cases are from the same or different families. Link with ID seems tenuous at best.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2236 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2236 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Marked gene: SOBP as ready
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Mendeliome v0.1471 SOBP Zornitza Stark Marked gene: SOBP as ready
Mendeliome v0.1471 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Mendeliome v0.1471 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Mendeliome v0.1470 SOBP Zornitza Stark Publications for gene: SOBP were set to
Mendeliome v0.1469 SOBP Zornitza Stark Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2235 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Intellectual disability syndromic and non-syndromic v0.2234 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Mendeliome v0.1468 SOBP Zornitza Stark Classified gene: SOBP as Red List (low evidence)
Mendeliome v0.1468 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2234 SOBP Zornitza Stark Publications for gene: SOBP were set to 21035105
Intellectual disability syndromic and non-syndromic v0.2233 SOBP Zornitza Stark Publications for gene: SOBP were set to
Mendeliome v0.1467 SOBP Zornitza Stark reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2233 SOBP Zornitza Stark Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2232 SOBP Zornitza Stark Classified gene: SOBP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2232 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2231 SOBP Zornitza Stark reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2231 SNORD118 Zornitza Stark Classified gene: SNORD118 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2231 SNORD118 Zornitza Stark Gene: snord118 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2230 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.92 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Callosome v0.92 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Callosome v0.92 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Callosome v0.92 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Callosome v0.91 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Callosome v0.90 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.89 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Callosome v0.89 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Callosome v0.88 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1467 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Mendeliome v0.1467 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Mendeliome v0.1467 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Mendeliome v0.1466 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Mendeliome v0.1465 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1464 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Mendeliome v0.1464 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Mendeliome v0.1463 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2230 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Intellectual disability syndromic and non-syndromic v0.2230 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2230 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501
Intellectual disability syndromic and non-syndromic v0.2229 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501
Intellectual disability syndromic and non-syndromic v0.2229 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to 22279524
Intellectual disability syndromic and non-syndromic v0.2228 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Intellectual disability syndromic and non-syndromic v0.2228 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2227 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2227 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2226 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1463 SMG9 Zornitza Stark Marked gene: SMG9 as ready
Mendeliome v0.1463 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Mendeliome v0.1463 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from to Heart and brain malformation syndrome, MIM# 616920
Mendeliome v0.1462 SMG9 Zornitza Stark Publications for gene: SMG9 were set to
Mendeliome v0.1461 SMG9 Zornitza Stark Mode of inheritance for gene: SMG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1460 SMG9 Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Marked gene: SMG9 as ready
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Classified gene: SMG9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2226 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2225 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 27018474; 31390136
Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, MIM# 616920
Review for gene: SMG9 was set to GREEN
Added comment: Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2224 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2223 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 26350204; 28369036
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)
Review for gene: SMARCD2 was set to AMBER
Added comment: Candidate ID gene in PMID:26350204 and developmental delay seen in 2 patients with SGD2 PMID:28369036.
Sources: Expert list
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Gene: tmprss3 has been classified as Green List (High Evidence).
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Publications for gene: TMPRSS3 were set to
Mendeliome v0.1459 TMPRSS3 Zornitza Stark Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072
Mendeliome v0.1458 TMPRSS3 Zornitza Stark Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1457 TMPRSS3 Zornitza Stark reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Gene: tmprss3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.325 TMPRSS3 Zornitza Stark Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072
Deafness_IsolatedAndComplex v0.324 TMPRSS3 Zornitza Stark Publications for gene: TMPRSS3 were set to
Deafness_IsolatedAndComplex v0.323 TMPRSS3 Zornitza Stark Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.322 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Deafness_IsolatedAndComplex v0.321 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Deafness_IsolatedAndComplex v0.320 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.319 POU3F4 Zornitza Stark Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM# 304400
Deafness_IsolatedAndComplex v0.318 POU3F4 Zornitza Stark Publications for gene: POU3F4 were set to
Deafness_IsolatedAndComplex v0.317 POU3F4 Zornitza Stark Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v0.316 POU3F4 Zornitza Stark reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31786483, 30176854; Phenotypes: Deafness, X-linked 2, MIM# 304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1457 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Mendeliome v0.1457 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Mendeliome v0.1457 POU3F4 Zornitza Stark Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM#304400
Mendeliome v0.1456 POU3F4 Zornitza Stark Publications for gene: POU3F4 were set to
Mendeliome v0.1455 POU3F4 Zornitza Stark Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.101 COX4I2 Crystle Lee reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (MIM#612714); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1454 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Mendeliome v0.1454 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1454 SLIT2 Zornitza Stark Phenotypes for gene: SLIT2 were changed from to CAKUT
Mendeliome v0.1453 SLIT2 Zornitza Stark Publications for gene: SLIT2 were set to
Mendeliome v0.1452 SLIT2 Zornitza Stark Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1451 SLIT2 Zornitza Stark Classified gene: SLIT2 as Amber List (moderate evidence)
Mendeliome v0.1451 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1450 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 15130495; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.88 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Callosome v0.88 SLIT2 Zornitza Stark Gene: slit2 has been classified as Red List (Low Evidence).
Callosome v0.88 SLIT2 Zornitza Stark Publications for gene: SLIT2 were set to
Callosome v0.87 SLIT2 Zornitza Stark Classified gene: SLIT2 as Red List (low evidence)
Callosome v0.87 SLIT2 Zornitza Stark Gene: slit2 has been classified as Red List (Low Evidence).
Callosome v0.86 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: None; Publications: 22349628; Phenotypes: ; Mode of inheritance: None
Congenital Heart Defect v0.22 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Congenital Heart Defect v0.22 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.22 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM#618780
Congenital Heart Defect v0.21 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Congenital Heart Defect v0.20 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1450 CEL Zornitza Stark Marked gene: CEL as ready
Mendeliome v0.1450 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1450 CEL Zornitza Stark Phenotypes for gene: CEL were changed from to Maturity-onset diabetes of the young, type VIII
Mendeliome v0.1449 CEL Zornitza Stark Publications for gene: CEL were set to
Mendeliome v0.1448 CEL Zornitza Stark Mode of inheritance for gene: CEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1447 CEL Zornitza Stark Classified gene: CEL as Amber List (moderate evidence)
Mendeliome v0.1447 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1446 CEL Zornitza Stark reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.4 CEL Zornitza Stark Marked gene: CEL as ready
Monogenic Diabetes v0.4 CEL Zornitza Stark Added comment: Comment when marking as ready: Agree, only frameshift mutations in the VNTR-containing exon 11 have evidence for pathogenicity.
Monogenic Diabetes v0.4 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.4 CEL Zornitza Stark Classified gene: CEL as Amber List (moderate evidence)
Monogenic Diabetes v0.4 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2222 PIGA Zornitza Stark Marked gene: PIGA as ready
Intellectual disability syndromic and non-syndromic v0.2222 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2222 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Intellectual disability syndromic and non-syndromic v0.2221 PIGA Zornitza Stark Publications for gene: PIGA were set to
Intellectual disability syndromic and non-syndromic v0.2220 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2219 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.616 PIGA Zornitza Stark Marked gene: PIGA as ready
Genetic Epilepsy v0.616 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Genetic Epilepsy v0.616 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Genetic Epilepsy v0.615 PIGA Zornitza Stark Publications for gene: PIGA were set to
Genetic Epilepsy v0.614 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2219 WDR81 Zornitza Stark reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411, 28969387; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1446 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Mendeliome v0.1446 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Mendeliome v0.1446 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967
Mendeliome v0.1445 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Mendeliome v0.1444 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.101 ETFA Bryony Thompson Classified gene: ETFA as Green List (high evidence)
Mitochondrial disease v0.101 ETFA Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
Mitochondrial disease v0.100 ETFA Bryony Thompson Classified gene: ETFA as Green List (high evidence)
Mitochondrial disease v0.100 ETFA Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
Mitochondrial disease v0.100 ETFB Bryony Thompson Classified gene: ETFB as Green List (high evidence)
Mitochondrial disease v0.100 ETFB Bryony Thompson Gene: etfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.99 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 12815589; 7912128
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFB was set to GREEN
Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain in the mitochondria. >3 cases reported. Very similar phenotypes to ETFA and ETFDH.
Sources: Literature
Mitochondrial disease v0.98 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 1882842; 12815589
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFA was set to GREEN
Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain. >3 cases reported. Very similar phenotypes to ETFB and ETFDH.
Sources: Literature
Mendeliome v0.1443 ARSG Zornitza Stark Marked gene: ARSG as ready
Mendeliome v0.1443 ARSG Zornitza Stark Gene: arsg has been classified as Red List (Low Evidence).
Mendeliome v0.1443 ARSG Zornitza Stark gene: ARSG was added
gene: ARSG was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, MIM# 618144
Review for gene: ARSG was set to RED
Added comment: Atypical late-onset RP/HL phenotype described in 5 individuals from three Yemenite Jewish families. Same homozygous missense variant identified in all, founder effect. Animal models associated with neuronal ceroid lipofuscinosis.
Sources: Expert list
Usher Syndrome v0.4 ARSG Zornitza Stark Marked gene: ARSG as ready
Usher Syndrome v0.4 ARSG Zornitza Stark Gene: arsg has been classified as Red List (Low Evidence).
Usher Syndrome v0.4 ARSG Zornitza Stark Publications for gene: ARSG were set to
Usher Syndrome v0.3 ARSG Zornitza Stark Classified gene: ARSG as Red List (low evidence)
Usher Syndrome v0.3 ARSG Zornitza Stark Gene: arsg has been classified as Red List (Low Evidence).
Usher Syndrome v0.2 ARSG Zornitza Stark reviewed gene: ARSG: Rating: RED; Mode of pathogenicity: None; Publications: 29300381, 20679209, 25452429, 26975023; Phenotypes: Usher syndrome, type IV, MIM# 618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mitochondrial disease v0.97 ETFDH Bryony Thompson Classified gene: ETFDH as Green List (high evidence)
Mitochondrial disease v0.97 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.96 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 19249206; 17412732
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFDH was set to GREEN
Added comment: This gene is required for electron transfer from mitochondrial flavin-containing dehydrogenases to the main respiratory chain. >3 cases reported.
Sources: Expert list
Usher Syndrome v0.1 Bryony Thompson Panel name changed from Usher Syndrome_RMH to Usher Syndrome
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Mitochondrial disease v0.95 ERCC6L2 Bryony Thompson reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29987015, 24507776; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1442 OTOF Zornitza Stark Marked gene: OTOF as ready
Mendeliome v0.1442 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Mendeliome v0.1442 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071)
Mendeliome v0.1441 OTOF Zornitza Stark Publications for gene: OTOF were set to
Mendeliome v0.1440 OTOF Zornitza Stark Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1439 OTOF Zornitza Stark reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Marked gene: OTOF as ready
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.316 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071
Deafness_IsolatedAndComplex v0.315 OTOF Zornitza Stark Publications for gene: OTOF were set to
Deafness_IsolatedAndComplex v0.314 OTOF Zornitza Stark Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.95 CYCS Bryony Thompson reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18345000, 24326104, 30051457; Phenotypes: Thrombocytopenia 4 MIM#612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.95 COQ7 Bryony Thompson Classified gene: COQ7 as Green List (high evidence)
Mitochondrial disease v0.95 COQ7 Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.94 COQ7 Bryony Thompson gene: COQ7 was added
gene: COQ7 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 31240163
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 MIM#616733
Review for gene: COQ7 was set to GREEN
Added comment: COQ7 encodes an enzyme that catalyses a critical step in CoQ10 biosynthesis. Three unrelated cases have been reported with this condition.
Sources: Expert list
Mitochondrial disease v0.93 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Mitochondrial disease v0.93 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.92 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 30885959; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: COA7 is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain. >3 unrelated cases have been reported with the neurological condition.
Sources: Expert list
Mitochondrial disease v0.91 ATP5E Bryony Thompson Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disease v0.91 ATP5E Bryony Thompson Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.90 ATP5E Bryony Thompson reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.90 APTX Bryony Thompson Classified gene: APTX as Green List (high evidence)
Mitochondrial disease v0.90 APTX Bryony Thompson Gene: aptx has been classified as Green List (High Evidence).
Mitochondrial disease v0.89 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 30986824; 26256098
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920
Review for gene: APTX was set to GREEN
Added comment: APTX deficiency impairs mitochondrial function, demonstrated in multiple publications and experiments. This is a well-established ataxia gene.
Sources: Expert list
Mendeliome v0.1439 MYL1 Bryony Thompson Classified gene: MYL1 as Amber List (moderate evidence)
Mendeliome v0.1439 MYL1 Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1438 MYL1 Bryony Thompson gene: MYL1 was added
gene: MYL1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Review for gene: MYL1 was set to AMBER
Added comment: Two probands with congenital myopathy and a zebrafish model. Probably need one more family to push it over the line.
Sources: NHS GMS
Congenital Heart Defect v0.19 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Congenital Heart Defect v0.19 CITED2 Zornitza Stark Added comment: Comment when marking as ready: Supportive animal model data.
Congenital Heart Defect v0.19 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.19 CITED2 Zornitza Stark Phenotypes for gene: CITED2 were changed from to Atrial septal defect 8, 614433; Ventricular septal defect 2, 614431
Congenital Heart Defect v0.18 CITED2 Zornitza Stark Publications for gene: CITED2 were set to
Congenital Heart Defect v0.18 CITED2 Zornitza Stark Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1437 FXR1 Bryony Thompson Classified gene: FXR1 as Green List (high evidence)
Mendeliome v0.1437 FXR1 Bryony Thompson Added comment: Comment on list classification: Only two families, but a lot of functional supporting evidence including a mouse model. Pathogenic variants likely to be found in exon 15 of the skeletal muscle isoform, specifically.
Mendeliome v0.1437 FXR1 Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence).
Mendeliome v0.1436 FXR1 Bryony Thompson gene: FXR1 was added
gene: FXR1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808
Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy
Review for gene: FXR1 was set to GREEN
Added comment: Two unrelated families and a mouse model with non-lethal myopathy phenotype.
Sources: NHS GMS
Rhabdomyolysis and Metabolic Myopathy v0.12 TYMP Bryony Thompson Classified gene: TYMP as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.12 TYMP Bryony Thompson Gene: tymp has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.11 PHKB Bryony Thompson Classified gene: PHKB as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.11 PHKB Bryony Thompson Gene: phkb has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.10 Bryony Thompson Panel name changed from Rhabdomyolysis_RMH to Rhabdomyolysis RMH
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Deafness_IsolatedAndComplex v0.313 TMPRSS3 Chern Lim reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 GJB2 Chern Lim reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1435 POU3F4 Elena Savva reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31786483, 30176854; Phenotypes: Deafness, X-linked 2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.3 DPM3 Bryony Thompson Classified gene: DPM3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.3 DPM3 Bryony Thompson Gene: dpm3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.2 DPM3 Bryony Thompson gene: DPM3 was added
gene: DPM3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565; 28803818; 31266720
Phenotypes for gene: DPM3 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
Review for gene: DPM3 was set to GREEN
Added comment: >3 cases with limb girdle muscular dystrophy, adult onset reported.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.1 Bryony Thompson Panel name changed from Limb Girdle Muscular Dystrophy_RMH to Limb Girdle Muscular Dystrophy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Congenital Heart Defect v0.17 FLT4 Tegan French reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 30232381; Phenotypes: Congenital heart defects, multiple types, 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.3 CEL Elena Savva reviewed gene: CEL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: None
Mendeliome v0.1435 WDR81 Kristin Rigbye edited their review of gene: WDR81: Changed publications: 21885617, 28556411, 28969387
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).; to: Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A few homozygous families reported to date. Variants are expected to results in a loss of function, although functional studies have not been performed.; to: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Genetic Epilepsy v0.613 PIGA Chern Lim reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1435 WDR81 Kristin Rigbye reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 OTOF Ain Roesley reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.17 CITED2 Kristin Rigbye reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16287139; Phenotypes: Atrial septal defect 8, 614433, Ventricular septal defect 2, 614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1435 TBCE Zornitza Stark Marked gene: TBCE as ready
Mendeliome v0.1435 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Mendeliome v0.1435 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
Mendeliome v0.1434 TBCE Zornitza Stark Publications for gene: TBCE were set to
Mendeliome v0.1433 TBCE Zornitza Stark Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1432 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Mendeliome v0.1432 HTRA1 Zornitza Stark Gene: htra1 has been classified as Green List (High Evidence).
Mendeliome v0.1432 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from to {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Mendeliome v0.1431 HTRA1 Zornitza Stark Publications for gene: HTRA1 were set to
Mendeliome v0.1430 HTRA1 Zornitza Stark Mode of pathogenicity for gene: HTRA1 was changed from to Other
Mendeliome v0.1429 HTRA1 Zornitza Stark Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Marked gene: TNNI3 as ready
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from to ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369
Dilated Cardiomyopathy v0.10 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to
Dilated Cardiomyopathy v0.9 TNNI3 Zornitza Stark Mode of pathogenicity for gene: TNNI3 was changed from to Other
Dilated Cardiomyopathy v0.8 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1428 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Mendeliome v0.1428 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Mendeliome v0.1428 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, 617290
Mendeliome v0.1427 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Mendeliome v0.1426 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1425 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Mendeliome v0.1425 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Mendeliome v0.1425 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1 (MIM#151100); Noonan syndrome 1 (MIM#163950); Metachondromatosis (MIM#156250)
Mendeliome v0.1424 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Mendeliome v0.1423 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Other
Mendeliome v0.1422 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1421 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Mendeliome v0.1421 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Mendeliome v0.1421 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from to Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Mendeliome v0.1420 SYNE1 Zornitza Stark Publications for gene: SYNE1 were set to
Mendeliome v0.1419 SYNE1 Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1418 SYNE1 Zornitza Stark edited their review of gene: SYNE1: Added comment: Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.
Distal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.; Changed rating: GREEN; Changed publications: 23352163, 27782104; Changed phenotypes: Arthrogryposis multiplex congenita, myogenic type, MIM# 618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998, Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.86 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.85 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Callosome v0.85 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Callosome v0.85 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.85 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.84 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Callosome v0.83 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.82 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1418 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.
Mendeliome v0.1418 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)
Mitochondrial disease v0.87 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Mitochondrial disease v0.86 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1418 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mendeliome v0.1418 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)
Mendeliome v0.1417 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Mendeliome v0.1416 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 TBCE Elena Savva reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 HTRA1 Elena Savva reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29895533, 19387015; Phenotypes: {Macular degeneration, age-related, 7}, 6101493, {Macular degeneration, age-related, neovascular type}, 610149, CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.7 TNNI3 Elena Savva reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15607392; Phenotypes: ?Cardiomyopathy, dilated, 2A 611880, Cardiomyopathy, dilated, 1FF 613286, Cardiomyopathy, familial restrictive, 1115210, Cardiomyopathy, hypertrophic, 761369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1415 PLPBP Elena Savva reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29689137, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hyperinsulinism v0.28 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Mendeliome v0.1415 PTPN11 Crystle Lee reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24935154, 11704759, 21533187; Phenotypes: LEOPARD syndrome 1 (MIM#151100), Noonan syndrome 1 (MIM#163950), Metachondromatosis (MIM#156250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1415 SYNE1 Crystle Lee reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30573412; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743); Mode of inheritance: None
Mitochondrial disease v0.85 PNPT1 Crystle Lee reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 PNPT1 Crystle Lee reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 30244537, PMID: 28594066, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 MPP3 Zornitza Stark Marked gene: MPP3 as ready
Mendeliome v0.1415 MPP3 Zornitza Stark Gene: mpp3 has been classified as Red List (Low Evidence).
Mendeliome v0.1415 MPP3 Zornitza Stark Classified gene: MPP3 as Red List (low evidence)
Mendeliome v0.1415 MPP3 Zornitza Stark Gene: mpp3 has been classified as Red List (Low Evidence).
Mendeliome v0.1414 MPP3 Zornitza Stark reviewed gene: MPP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1414 GLRX Zornitza Stark Marked gene: GLRX as ready
Mendeliome v0.1414 GLRX Zornitza Stark Gene: glrx has been classified as Red List (Low Evidence).
Mendeliome v0.1414 GLRX Zornitza Stark Classified gene: GLRX as Red List (low evidence)
Mendeliome v0.1414 GLRX Zornitza Stark Gene: glrx has been classified as Red List (Low Evidence).
Mendeliome v0.1413 GLRX Zornitza Stark reviewed gene: GLRX: Rating: RED; Mode of pathogenicity: None; Publications: 27958883; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1413 GC Zornitza Stark Marked gene: GC as ready
Mendeliome v0.1413 GC Zornitza Stark Gene: gc has been classified as Red List (Low Evidence).
Mendeliome v0.1413 GC Zornitza Stark Classified gene: GC as Red List (low evidence)
Mendeliome v0.1413 GC Zornitza Stark Gene: gc has been classified as Red List (Low Evidence).
Mendeliome v0.1412 GC Natalie Tan reviewed gene: GC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1412 AANAT Zornitza Stark Marked gene: AANAT as ready
Mendeliome v0.1412 AANAT Zornitza Stark Gene: aanat has been classified as Red List (Low Evidence).
Mendeliome v0.1412 AANAT Zornitza Stark Phenotypes for gene: AANAT were changed from to Delayed sleep phase, susceptibility to
Mendeliome v0.1411 AANAT Zornitza Stark Publications for gene: AANAT were set to
Mendeliome v0.1410 AANAT Zornitza Stark Mode of inheritance for gene: AANAT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1409 AANAT Zornitza Stark Classified gene: AANAT as Red List (low evidence)
Mendeliome v0.1409 AANAT Zornitza Stark Gene: aanat has been classified as Red List (Low Evidence).
Mendeliome v0.1408 AANAT Zornitza Stark reviewed gene: AANAT: Rating: RED; Mode of pathogenicity: None; Publications: 12736803; Phenotypes: Delayed sleep phase, susceptibility to; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1408 DUX4 Zornitza Stark Tag SV/CNV tag was added to gene: DUX4.
Mendeliome v0.1408 DUX4 Zornitza Stark Marked gene: DUX4 as ready
Mendeliome v0.1408 DUX4 Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence).
Mendeliome v0.1408 DUX4 Zornitza Stark Phenotypes for gene: DUX4 were changed from to Fascioscapulohumeral muscular dystrophy, MIM#158900
Mendeliome v0.1407 DUX4 Zornitza Stark Mode of inheritance for gene: DUX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1406 DUX4 Zornitza Stark Classified gene: DUX4 as Red List (low evidence)
Mendeliome v0.1406 DUX4 Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence).
Mendeliome v0.1405 DUX4 Zornitza Stark reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy, MIM#158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.9 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Optic Atrophy v0.9 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Optic Atrophy v0.9 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672
Optic Atrophy v0.8 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Optic Atrophy v0.7 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.6 MTPAP Zornitza Stark Classified gene: MTPAP as Red List (low evidence)
Optic Atrophy v0.6 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Regression v0.79 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Regression v0.79 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Regression v0.79 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Perinatal lethal encephalopathy; Spastic ataxia 4, autosomal recessive, MIM#613672
Regression v0.78 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Regression v0.77 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.76 MTPAP Zornitza Stark Classified gene: MTPAP as Amber List (moderate evidence)
Regression v0.76 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.5 MTPAP Natalie Tan reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20970105; Phenotypes: ?Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.75 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 31779033; Phenotypes: Perinatal lethal encephalopathy, Spastic ataxia 4, autosomal recessive, MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.69 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Autism v0.69 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence).
Autism v0.69 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Green List (high evidence)
Autism v0.69 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence).
Autism v0.68 SLC9A9 Zornitza Stark gene: SLC9A9 was added
gene: SLC9A9 was added to Autism. Sources: Expert list
Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A9 were set to 18621663; 31134136; 27123481; 26755066
Phenotypes for gene: SLC9A9 were set to {?Autism susceptibility 16}, MIM# 613410
Review for gene: SLC9A9 was set to GREEN
Added comment: Several families and animal model data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2219 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Intellectual disability syndromic and non-syndromic v0.2219 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2219 SLC9A9 Zornitza Stark Phenotypes for gene: SLC9A9 were changed from to {?Autism susceptibility 16}, MIM# 613410
Intellectual disability syndromic and non-syndromic v0.2218 SLC9A9 Zornitza Stark Publications for gene: SLC9A9 were set to
Intellectual disability syndromic and non-syndromic v0.2217 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2217 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2216 SLC9A9 Zornitza Stark reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 31134136, 27123481, 26755066; Phenotypes: {?Autism susceptibility 16}, MIM# 613410; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2216 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Intellectual disability syndromic and non-syndromic v0.2216 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2216 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Intellectual disability syndromic and non-syndromic v0.2215 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2214 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2214 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2213 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1405 SLC6A4 Zornitza Stark Marked gene: SLC6A4 as ready
Mendeliome v0.1405 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2213 SLC6A4 Zornitza Stark Marked gene: SLC6A4 as ready
Intellectual disability syndromic and non-syndromic v0.2213 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2213 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Intellectual disability syndromic and non-syndromic v0.2212 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Intellectual disability syndromic and non-syndromic v0.2212 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1405 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Mendeliome v0.1404 SLC6A4 Zornitza Stark Publications for gene: SLC6A4 were set to
Mendeliome v0.1403 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1402 SLC6A4 Zornitza Stark Classified gene: SLC6A4 as Red List (low evidence)
Mendeliome v0.1402 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1401 SLC6A4 Zornitza Stark reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2211 SLC6A4 Zornitza Stark Publications for gene: SLC6A4 were set to
Intellectual disability syndromic and non-syndromic v0.2211 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2210 SLC6A4 Zornitza Stark Classified gene: SLC6A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2210 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2209 SLC6A4 Zornitza Stark reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: None
Genetic Epilepsy v0.613 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Genetic Epilepsy v0.613 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.613 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy
Genetic Epilepsy v0.612 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Genetic Epilepsy v0.611 TREX1 Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.610 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1401 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Mendeliome v0.1401 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Mendeliome v0.1401 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy
Mendeliome v0.1400 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Mendeliome v0.1399 TREX1 Zornitza Stark Mode of pathogenicity for gene: TREX1 was changed from to Other
Mendeliome v0.1398 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Mendeliome v0.1398 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Mendeliome v0.1398 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544)
Mendeliome v0.1397 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Mendeliome v0.1396 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Marked gene: PNKP as ready
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Added comment: Comment when marking as ready: Note 17-bp duplication (1250_1266dup) in exon 14 identified in multiple individuals.
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2209 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM#613402
Intellectual disability syndromic and non-syndromic v0.2208 PNKP Zornitza Stark Publications for gene: PNKP were set to
Intellectual disability syndromic and non-syndromic v0.2207 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2206 PNKP Zornitza Stark reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23224214, 20118933; Phenotypes: Microcephaly, seizures, and developmental delay, MIM#613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1395 PNKP Zornitza Stark Marked gene: PNKP as ready
Mendeliome v0.1395 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Mendeliome v0.1395 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402
Mendeliome v0.1394 PNKP Zornitza Stark Publications for gene: PNKP were set to
Mendeliome v0.1393 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.7 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Heterotaxy v0.7 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Heterotaxy v0.7 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Heterotaxy v0.6 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Heterotaxy v0.5 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.4 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Ciliary Dyskinesia v0.22 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Ciliary Dyskinesia v0.21 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.20 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1392 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Mendeliome v0.1392 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Mendeliome v0.1392 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Mendeliome v0.1391 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Mendeliome v0.1390 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.313 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)
Deafness_IsolatedAndComplex v0.312 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Deafness_IsolatedAndComplex v0.311 CDH23 Zornitza Stark Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.310 CDH23 Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1389 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Mendeliome v0.1389 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Mendeliome v0.1389 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067)
Mendeliome v0.1388 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Mendeliome v0.1387 CDH23 Zornitza Stark Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 TREX1 Kristin Rigbye reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.1386 HGSNAT Ain Roesley reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 PNKP Kristin Rigbye reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1386 DNAH5 Ain Roesley reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 CDH23 Ain Roesley reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.12 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Cerebral Palsy v0.12 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.12 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Cerebral Palsy v0.12 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.11 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Cerebral Palsy. Sources: Expert Review
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Review for gene: CTNNB1 was set to GREEN
Added comment: Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2206 SLC25A24 Zornitza Stark Marked gene: SLC25A24 as ready
Intellectual disability syndromic and non-syndromic v0.2206 SLC25A24 Zornitza Stark Gene: slc25a24 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2206 SLC25A24 Zornitza Stark Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289
Intellectual disability syndromic and non-syndromic v0.2205 SLC25A24 Zornitza Stark Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2204 SLC25A24 Zornitza Stark Classified gene: SLC25A24 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2204 SLC25A24 Zornitza Stark Gene: slc25a24 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2203 SLC25A24 Zornitza Stark reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2203 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2203 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2202 SLC25A19 Zornitza Stark changed review comment from: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype through to a neuropathy.; to: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy.
Intellectual disability syndromic and non-syndromic v0.2202 SLC25A19 Zornitza Stark edited their review of gene: SLC25A19: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2202 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2201 SLC1A2 Zornitza Stark gene: SLC1A2 was added
gene: SLC1A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A2 were set to 27476654; 28777935
Phenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41, MIM#617105; Intellectual disability
Review for gene: SLC1A2 was set to GREEN
gene: SLC1A2 was marked as current diagnostic
Added comment: Four unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2200 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Intellectual disability syndromic and non-syndromic v0.2200 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2200 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability
Mendeliome v0.1386 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Mendeliome v0.1386 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1386 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability
Mendeliome v0.1385 SHROOM4 Zornitza Stark Publications for gene: SHROOM4 were set to
Intellectual disability syndromic and non-syndromic v0.2199 SHROOM4 Zornitza Stark Publications for gene: SHROOM4 were set to
Mendeliome v0.1384 SHROOM4 Zornitza Stark Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1383 SHROOM4 Zornitza Stark Classified gene: SHROOM4 as Amber List (moderate evidence)
Mendeliome v0.1383 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2198 SHROOM4 Zornitza Stark Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1382 SHROOM4 Zornitza Stark reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2197 SHROOM4 Zornitza Stark Classified gene: SHROOM4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2197 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2196 SHROOM4 Zornitza Stark reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Tubulointerstitial Disease v0.16 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Renal Tubulointerstitial Disease v0.16 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.16 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700
Renal Tubulointerstitial Disease v0.15 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Renal Tubulointerstitial Disease v0.14 HNF1B Zornitza Stark Mode of pathogenicity for gene: HNF1B was changed from to Other
Renal Tubulointerstitial Disease v0.13 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1382 F2 Zornitza Stark Marked gene: F2 as ready
Mendeliome v0.1382 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Mendeliome v0.1382 F2 Zornitza Stark Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Mendeliome v0.1381 F2 Zornitza Stark Publications for gene: F2 were set to
Mendeliome v0.1380 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1379 F2 Zornitza Stark Tag 5'UTR tag was added to gene: F2.
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Tag 5'UTR tag was added to gene: F2.
Mendeliome v0.1379 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Marked gene: F2 as ready
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.10 F2 Zornitza Stark Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Bleeding and Platelet Disorders v0.9 F2 Zornitza Stark Publications for gene: F2 were set to
Bleeding and Platelet Disorders v0.8 F2 Zornitza Stark Mode of pathogenicity for gene: F2 was changed from to Other
Bleeding and Platelet Disorders v0.7 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.6 F2 Michelle Torres reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal Tubulointerstitial Disease v0.12 HNF1B Michelle Torres reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25536396, 11845238, 15509593; Phenotypes: Diabetes mellitus, noninsulin-dependent 125853 AD, Renal cysts and diabetes syndrome 137920 AD, {Renal cell carcinoma} 144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.24 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Renal Macrocystic Disease v0.24 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.24 PKD1 Zornitza Stark Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900
Renal Macrocystic Disease v0.23 PKD1 Zornitza Stark Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.22 PKD1 Chern Lim reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1379 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Mendeliome v0.1379 CHD2 Zornitza Stark Gene: chd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2196 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Intellectual disability syndromic and non-syndromic v0.2196 CHD2 Zornitza Stark Gene: chd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.610 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Genetic Epilepsy v0.610 CHD2 Zornitza Stark Gene: chd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.610 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Intellectual disability syndromic and non-syndromic v0.2196 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Genetic Epilepsy v0.609 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2195 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1379 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Mendeliome v0.1378 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1377 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Mendeliome v0.1377 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Mendeliome v0.1377 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Mendeliome v0.1376 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Mendeliome v0.1375 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1374 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.18 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Cataract v0.18 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Cataract v0.18 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Cataract v0.17 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Cataract v0.16 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.15 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2194 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Intellectual disability syndromic and non-syndromic v0.2193 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Intellectual disability syndromic and non-syndromic v0.2192 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1374 UGT1A4 Zornitza Stark Marked gene: UGT1A4 as ready
Mendeliome v0.1374 UGT1A4 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence currently for Mendelian gene-disease association.
Mendeliome v0.1374 UGT1A4 Zornitza Stark Gene: ugt1a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1374 UGT1A4 Zornitza Stark Classified gene: UGT1A4 as Red List (low evidence)
Mendeliome v0.1374 UGT1A4 Zornitza Stark Gene: ugt1a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1373 CHD2 Teresa Zhao reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Incidentalome v0.9 DDX41 Zornitza Stark Marked gene: DDX41 as ready
Incidentalome v0.9 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Incidentalome v0.9 DDX41 Zornitza Stark Classified gene: DDX41 as Green List (high evidence)
Incidentalome v0.9 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Incidentalome v0.8 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Review for gene: DDX41 was set to GREEN
Added comment: Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance.
Sources: Expert list
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Marked gene: DDX41 as ready
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Classified gene: DDX41 as Green List (high evidence)
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.24 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Review for gene: DDX41 was set to GREEN
Added comment: Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2191 INTS1 Chern Lim reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1373 UGT1A4 Belinda Chong reviewed gene: UGT1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None