Activity
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| Limb disorders v1.31 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to 29276006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.76 | WARS2 |
Sarah Leigh Source Expert Review Green was added to WARS2. Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2 Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | UQCRB |
Sarah Leigh Source Expert Review Green was added to UQCRB. Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TUFM |
Sarah Leigh Source Expert Review Green was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TRMT5 |
Sarah Leigh Source Expert Review Green was added to TRMT5. Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5 Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TRMT10C |
Sarah Leigh Source Expert Review Green was added to TRMT10C. Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C Publications for gene TRMT10C were changed from to 27132592 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TRIT1 |
Sarah Leigh Source Expert Review Green was added to TRIT1. Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1 Publications for gene TRIT1 were changed from to 24901367; 28185376 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TOP3A |
Sarah Leigh gene: TOP3A was added gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 |
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| Likely inborn error of metabolism v1.76 | TMEM126B |
Sarah Leigh Source Expert Review Green was added to TMEM126B. Added phenotypes Isolated complex I deficiency for gene: TMEM126B Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | TIMM50 |
Sarah Leigh Source Expert Review Green was added to TIMM50. Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | SLC25A42 |
Sarah Leigh Source Expert Review Green was added to SLC25A42. Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42 Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | SLC25A12 |
Sarah Leigh Source Expert Review Green was added to SLC25A12. Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12 Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | SFXN4 |
Sarah Leigh Source Expert Review Green was added to SFXN4. Mode of inheritance for gene SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4 Publications for gene SFXN4 were changed from to 24119684 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | RTN4IP1 |
Sarah Leigh Source Expert Review Green was added to RTN4IP1. Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1 Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | QRSL1 |
Sarah Leigh Source Expert Review Green was added to QRSL1. Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1 Publications for gene QRSL1 were changed from to 29440775; 26741492 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | PNPLA8 |
Sarah Leigh Source Expert Review Green was added to PNPLA8. Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8 Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | PMPCB |
Sarah Leigh gene: PMPCB was added gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954 |
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| Likely inborn error of metabolism v1.76 | PITRM1 |
Sarah Leigh Source Expert Review Green was added to PITRM1. Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1 Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | PARS2 |
Sarah Leigh Source Expert Review Green was added to PARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2 Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NDUFB8 |
Sarah Leigh Source Expert Review Green was added to NDUFB8. Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8 Publications for gene NDUFB8 were changed from to 27290639; 29429571 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NDUFB3 | Sarah Leigh Added phenotypes Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.76 | NDUFAF8 |
Sarah Leigh gene: NDUFAF8 was added gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype |
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| Likely inborn error of metabolism v1.76 | NDUFA9 |
Sarah Leigh Source Expert Review Green was added to NDUFA9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NDUFA6 |
Sarah Leigh Source Expert Review Green was added to NDUFA6. Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6 Publications for gene NDUFA6 were changed from to 30245030 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NDUFA4 |
Sarah Leigh Source Expert Review Green was added to NDUFA4. Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4 Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NAXE |
Sarah Leigh Source Expert Review Green was added to NAXE. Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE Publications for gene NAXE were changed from to 27616477; 27290639; 27122014 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | NADK2 |
Sarah Leigh Source Expert Review Green was added to NADK2. Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2 Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MTPAP |
Sarah Leigh Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MTFMT |
Sarah Leigh Source Expert Review Green was added to MTFMT. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MRPS2 |
Sarah Leigh Source Expert Review Green was added to MRPS2. Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2 Publications for gene MRPS2 were changed from to 29576219 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MRPL3 |
Sarah Leigh Source Expert Review Green was added to MRPL3. Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MPC1 |
Sarah Leigh Source Expert Review Green was added to MPC1. Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1 Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MIPEP |
Sarah Leigh gene: MIPEP was added gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064 Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228 |
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| Likely inborn error of metabolism v1.76 | MICU1 |
Sarah Leigh Source Expert Review Green was added to MICU1. Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1 Publications for gene MICU1 were changed from to 24336167; 29721912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | MECR |
Sarah Leigh Source Expert Review Green was added to MECR. Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR Publications for gene MECR were changed from to 27817865 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | LYRM7 |
Sarah Leigh Source Expert Review Green was added to LYRM7. Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7 Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | LIPT2 |
Sarah Leigh Source Expert Review Green was added to LIPT2. Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2 Publications for gene LIPT2 were changed from to 28803783; 28757203 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | ISCU |
Sarah Leigh Source Expert Review Green was added to ISCU. Mode of inheritance for gene ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU Publications for gene ISCU were changed from 27604308 to 18304497; 29079705; 18296749; 19567699; 20206689 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | ISCA1 |
Sarah Leigh gene: ISCA1 was added gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 |
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| Likely inborn error of metabolism v1.76 | HSD17B10 |
Sarah Leigh Source Expert Review Green was added to HSD17B10. Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10 Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | HARS2 |
Sarah Leigh Source Expert Review Green was added to HARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | GFM2 |
Sarah Leigh Source Expert Review Green was added to GFM2. Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2 Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | COA7 |
Sarah Leigh gene: COA7 was added gene: COA7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 |
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| Likely inborn error of metabolism v1.76 | CARS2 |
Sarah Leigh Source Expert Review Green was added to CARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2 Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.76 | C19orf70 |
Sarah Leigh gene: C19orf70 was added gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409 Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329 |
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| Likely inborn error of metabolism v1.76 | ATP5D |
Sarah Leigh gene: ATP5D was added gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120 |
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| Limb disorders v1.30 | FZD2 |
Eleanor Williams commented on gene: FZD2: Associated with Omodysplasia 2 (#164745) in OMIM. Omodysplasia 2: PMID: 25759469 - Saal et al. 2015 - 1 case - a mother and daughter with omodysplasia were found to have a FZD2 mutation (c.1644G>A, p.Trp548*). The variant was found to have occurred de novo in the mother. The altered protein is still produced in vitro, but is shown to have reduced ability to interact with its downstream target DISHEVELLED. The mother had multiple anomalies, including bilateral cleft lip and cleft palate, short upper extremities, dysmorphic facial features and hypoplastic labia and clitoris. Skeletal X rays of the daughter showed hypoplasia of T11 vertebral body and bilateral dislocation of the radius with short humeri. At 6 years musculoskeletal examination showed primarily rhizomelic shortening of the upper extremities and a mild shortening of the forearms with limited forearm supination/pronation. There was mild fifth finger clinodactyly with no brachydactyly. Robinow syndrome: PMID: 29276006 - White et al 2018 - 4 families with at least one individual clinical diagnosed with Robinow or Robinow-like phenotypes and with variants in FZD2 were identified . All showed limb phenotypes including mesomelic limb shortening (3 families, mild in one case), brachdactyly (3 families), proximaly implanted thumbs (1 family), Medelung deformity (1 family). |
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| Early onset or syndromic epilepsy v1.187 | ZIC2 |
Rebecca Foulger gene: ZIC2 was added gene: ZIC2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5, 609637 |
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| Early onset or syndromic epilepsy v1.187 | TGIF1 |
Rebecca Foulger gene: TGIF1 was added gene: TGIF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4, 142946 |
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| Early onset or syndromic epilepsy v1.187 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STIL were set to Microcephaly 7, primary, 612703 |
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| Early onset or syndromic epilepsy v1.187 | SLC25A19 |
Rebecca Foulger gene: SLC25A19 was added gene: SLC25A19 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 |
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| Early onset or syndromic epilepsy v1.187 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Basal cell nevus syndrome, 109400; Holoprosencephaly 7, 610828; Basal cell carcinoma, somatic, 605462 |
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| Early onset or syndromic epilepsy v1.187 | PRDM8 |
Rebecca Foulger gene: PRDM8 was added gene: PRDM8 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM8 were set to 22961547 Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10, 616640 |
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| Early onset or syndromic epilepsy v1.187 | LMNB2 |
Rebecca Foulger gene: LMNB2 was added gene: LMNB2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNB2 were set to 16826530 Phenotypes for gene: LMNB2 were set to {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540 |
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| Early onset or syndromic epilepsy v1.187 | GUF1 |
Rebecca Foulger gene: GUF1 was added gene: GUF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUF1 were set to 26486472 Phenotypes for gene: GUF1 were set to ?Epileptic encephalopathy, early infantile, 40, 617065 |
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| Early onset or syndromic epilepsy v1.187 | GABRB1 |
Rebecca Foulger gene: GABRB1 was added gene: GABRB1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 26950270; 27273810 Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, 617153 |
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| Early onset or syndromic epilepsy v1.187 | CTSF |
Rebecca Foulger gene: CTSF was added gene: CTSF was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 16508006 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 |
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| Early onset or syndromic epilepsy v1.187 | CERS1 |
Rebecca Foulger gene: CERS1 was added gene: CERS1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS1 were set to 19243074 Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230 |
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| Early onset or syndromic epilepsy v1.187 | ADRA2B |
Rebecca Foulger gene: ADRA2B was added gene: ADRA2B was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: ADRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADRA2B were set to 11701600 Phenotypes for gene: ADRA2B were set to Epilepsy, myoclonic, familial adult, 2, 607876 |
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| Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Classified gene: MSTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.54 | MSTO1 | Ivone Leong Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.53 | MSTO1 | Ivone Leong Added comment: Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.53 | MSTO1 | Ivone Leong Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.52 | MSTO1 | Ivone Leong Publications for gene: MSTO1 were set to 28544275 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.30 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.29 | ASXL1 | Eleanor Williams Publications for gene: ASXL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.28 | ASXL1 | Eleanor Williams Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome, 605039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.27 | ASXL1 |
Eleanor Williams commented on gene: ASXL1: Associated with Bohring-Opitz syndrome 605039 in OMIM and Gene2Phenotype (confirmed). PMID: 21706002 - Hoischen et al. 2011 - 7 cases - sequenced 13 unrelated patients with Bohring-Opitz syndrome and found de novo heterozygous mutations in 7 of them. All 7 showed a typical BOS posture with flexed elbows and wrists and ulnar deviation of wrists and metacarpophalangeal joints. Syndactyly was observed in 3 out of the 7. Fixed contractures were observed in 6/7. PMID: 22419483 - Magini et al. 2012 - In 2 unrelated patients with classic features of Bohring-Opitz syndrome, identified 2 different de novo heterozygous truncating mutations in the ASXL1 gene not previously reported. Patient 1 - axial hypotonia, limitation of elbow extension, right talipes valgus, and typical facial appearance: prominent forehead, hemangioma over the forehead and glabella, exophthalmos, ptosis, hypertelorism, low‐set, and posteriorly angulated ears, long philtrum, and everted lower lip. Patient 2 had multiple phenotypic features that include flexion deformities of upper limbs joints, at elbow and wrist level with ulnar deviation of both hands, overlapping digits, abduced thumb, clenched fists, deep single palmar crease, typical BOS posture and hypertonia, with contractures at hips, knees, and ankles. Talo‐valgus deformity of feet was present |
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| Limb disorders v1.27 | PAX3 | Eleanor Williams Publications for gene: PAX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.26 | PAX3 | Eleanor Williams Phenotypes for gene: PAX3 were changed from to Waardenburg syndrome, type 3, 148820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.25 | PAX3 | Eleanor Williams Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOSR2 | Ivone Leong reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | PAX3 |
Eleanor Williams changed review comment from: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed.; to: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: Homozygous cases: PMID: - not available - Bottani et al., 1999 - 1 case originally reported in Klein et al 1983 (PMID: 6340503) of compound heterozygous mutations in PAX3 involving a recurrent missense mutation in the homeodomain and a new one in the paired domain in an individual with WS3. (Full publications not accessed). PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 7726174- Zlotogora et al. 1995 - 1 case - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. Severe changes were present in the upper limbs, with rigidity of the larger joints -including shoulders, elbows, and wrists-as well as of the smaller joints of the fingers. Muscle wasting was severe in the pectoral region, the shoulders, and upper limbs. Axillary webs were present on both sides. There was a slight degree of contracture of the knees, and there was calcaneovalgus deformation of the feet. PMID: 26443304 - Mousty et al 2015 - 1 case - parents were first‐cousin relatives from a gypsy community in the south of France which both presented with a typical WS1 profile. Ultrasound examination of the fetus revealed cystic hygroma, holoprosencephaly, a lack of active movements, extremity abnormalities (short long bones associated with bilateral club hand and club foot), and significant spinal curvature. Both parents were found to have the same heterozygous mutation in exon 6 of PAX3, namely c.807C>G (p.Asn269Lys). Sequencing of fetal DNA found the mutation in the homozygous state. Functional studies showed an almost total loss of function of PAX3 co‐activation with SOX10 when it came to the mutant. Heterozygous cases: PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A heterozygous donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed. |
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| Limb disorders v1.24 | PAX3 |
Eleanor Williams commented on gene: PAX3: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed. |
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| Mitochondrial disorders v1.475 | SLC25A4 | Sarah Leigh Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.474 | SLC25A4 | Sarah Leigh Phenotypes for gene: SLC25A4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.473 | POLG2 | Sarah Leigh Publications for gene: POLG2 were set to 27592148; 30157269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.472 | POLG2 | Sarah Leigh Publications for gene: POLG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.471 | POLG2 | Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.471 | POLG2 | Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.30 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Cancer Germline Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.470 | ISCU | Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours cancer susceptibility v1.4 | Ellen McDonagh Panel types changed to Cancer Germline 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.469 | ISCU | Sarah Leigh changed review comment from: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.; to: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Classified gene: GOLGA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. GOLGA2 is not associated with any phenotype on OMIM or Gene2Phenotype. As the case presented in PMID: 30237576 lacked any information about patient family history, it is unclear whether the variant tracks with the phenotype. Therefore, given this gene an amber rating until further evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Gene: golga2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.469 | ISCU | Sarah Leigh edited their review of gene: ISCU: Changed publications: 18304497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.50 | GOLGA2 |
Ivone Leong Added comment: Comment on publications: PMID: 26742501 reported on a consanguineous Saudi family where the proband is diagnosed with a neuromuscular disorder characterized by developmental delay, seizures, microcephaly and muscular dystrophy. The proband is homozygous for a small deletion in the GOLGA2 gene which resulted in a frameshift mutation. The same researchers knocked down zebrafish golga2 and showed that this affected the skeletal muscles of the fish and recapitulated the human phenotype. PMID: 30237576 is a large, high-throughput Mendelian disease study. One patient with global developmental delay, microcephaly and motor weakness affecting lower extremities. Muscle biopsy showed muscular dystrophy. The patient is homozygous for a different small deletion variant that causes frameshift mutation. No other details are given about family history/pedigree. |
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| Congenital muscular dystrophy v1.50 | GOLGA2 | Ivone Leong Publications for gene: GOLGA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.469 | ISCU | Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.6 | CFB | David Kavanagh reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26283675, 25758434; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.6 | C3 | David Kavanagh reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20852386, 26471127; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | CFHR4 | David Kavanagh reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | THBD | David Kavanagh reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: Thrombophilia due to thrombomodulin defect MIM614486, aHUS MIMN 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | VTN | David Kavanagh reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: aHUS; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | INF2 | David Kavanagh reviewed gene: INF2: Rating: RED; Mode of pathogenicity: None; Publications: 27974406; Phenotypes: FSGS MIM 613237, CHT MIM 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | MMACHC | David Kavanagh reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24210589, 1593355, 11972107, 12210350, 17874135; Phenotypes: OMIM 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.469 | TARS2 | Sarah Leigh Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.468 | OXA1L | Sarah Leigh Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.467 | LYRM4 | Sarah Leigh Mode of inheritance for gene: LYRM4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.466 | NFS1 | Sarah Leigh Mode of inheritance for gene: NFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.465 | NDUFB10 | Sarah Leigh Mode of inheritance for gene: NDUFB10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.464 | NDUFA12 | Sarah Leigh Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.463 | MRPS7 | Sarah Leigh Mode of inheritance for gene: MRPS7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.462 | MRPL12 | Sarah Leigh Mode of inheritance for gene: MRPL12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.461 | IDH3B | Sarah Leigh Mode of inheritance for gene: IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.460 | COX5A | Sarah Leigh Publications for gene: COX5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.459 | COX5A | Sarah Leigh Mode of inheritance for gene: COX5A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.458 | COX4I1 | Sarah Leigh Mode of inheritance for gene: COX4I1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.457 | COA5 | Sarah Leigh Mode of inheritance for gene: COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.29 | KCNH2 | Ellen McDonagh Publications for gene: KCNH2 were set to 19716085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.1 | PITRM1 | Sarah Leigh edited their review of gene: PITRM1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.1 | PITRM1 | Sarah Leigh reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.97 | ISCA-37468-Loss | Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.97 | ISCA-37468-Loss | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.97 | ISCA-37468-Loss | Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.1 | PITRM1 | Sarah Leigh Publications for gene: PITRM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.96 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.96 | PPP2R2B_CAG | Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.95 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.95 | JPH3_CTG | Louise Daugherty commented on STR: JPH3_CTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.95 | HTT_CAG | Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.95 | CSTB_CCCCGCCCCGCG | Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.94 | CSTB_CCCCGCCCCGCG | Louise Daugherty commented on STR: CSTB_CCCCGCCCCGCG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.94 | CACNA1A_CAG | Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | CACNA1A_CAG | Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | CACNA1A_CAG | Louise Daugherty commented on STR: CACNA1A_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | ATXN2_CAG | Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.93 | ATXN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.92 | ATXN1_CAG | Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | TBP_CAG | Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | HTT_CAG | Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | FXN_GAA | Louise Daugherty commented on STR: FXN_GAA: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATXN7_CAG | Louise Daugherty commented on STR: ATXN7_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATXN2_CAG | Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATXN1_CAG | Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATXN10_ATTCT | Louise Daugherty commented on STR: ATXN10_ATTCT: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.92 | ATN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.91 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | HMGCL | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.149 | REEP6 | Ivone Leong Classified gene: REEP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.149 | REEP6 |
Ivone Leong Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP. This gene has been given green status based on the evidence provided by the reviewer. |
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| Retinal disorders v1.149 | REEP6 | Ivone Leong Gene: reep6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.91 | TAF1 | Louise Daugherty commented on gene: TAF1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.91 | GFAP | Louise Daugherty Classified gene: GFAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.91 | GFAP | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green - despite two initial red ratings from two GLH groups. Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.91 | GFAP | Louise Daugherty Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | CIZ1 | Louise Daugherty commented on gene: CIZ1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | GFAP | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | GFAP | Louise Daugherty commented on gene: GFAP: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | CHCHD2 | Louise Daugherty commented on gene: CHCHD2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | ATN1 | Louise Daugherty commented on gene: ATN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.996 | POU3F3 | Catherine Snow Classified gene: POU3F3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.996 | POU3F3 | Catherine Snow Gene: pou3f3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.995 | POU3F3 | Catherine Snow reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ISCA-37478-Gain | Louise Daugherty commented on Region: ISCA-37478-Gain: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ISCA-37404-Loss | Louise Daugherty commented on Region: ISCA-37404-Loss: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.18 |
Ivone Leong Panel name changed from Inherited colorectal cancer (with or without polyposis) to GI tract tumours List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; Inherited colorectal cancer (with or without polyposis) |
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| Mitochondrial disorders v1.456 | TRAK1 | Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red it is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | TRAK1 | Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported.; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Classified gene: AMMECR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene has been given a green status based on reviewer provided evidence, which supports a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Gene: ammecr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh Phenotypes for gene: PLA2G6 were changed from to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | PLA2G6 | Sarah Leigh Publications for gene: PLA2G6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | USMG5 | Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.28 | AMMECR1 | Ivone Leong Phenotypes for gene: AMMECR1 were changed from Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS | Sarah Leigh commented on gene: IARS: The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.27 | AMMECR1 | Ivone Leong Publications for gene: AMMECR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.995 | IARS | Sarah Leigh commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.995 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.22 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.22 | IARS | Sarah Leigh commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.327 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.327 | IARS | Sarah Leigh commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.67 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.67 | IARS | Sarah Leigh commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal cholestasis v1.4 | IARS | Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal cholestasis v1.4 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS | Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS2 | Sarah Leigh Tag new-gene-name was removed from gene: IARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS2 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS2 | Sarah Leigh commented on gene: IARS2: "New gene name" tag added, the new gene name is IARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | IARS2 | Sarah Leigh Tag new-gene-name tag was added to gene: IARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | XRCC4 | Sarah Leigh Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction 616541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | XRCC4 | Sarah Leigh Publications for gene: XRCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.454 | STXBP1 | Sarah Leigh Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.454 | STXBP1 | Sarah Leigh Publications for gene: STXBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.453 | SLC44A1 | Sarah Leigh Publications for gene: SLC44A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.452 | SLC39A8 | Sarah Leigh Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn 616721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.452 | SLC39A8 | Sarah Leigh Publications for gene: SLC39A8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.451 | SLC33A1 | Sarah Leigh Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.450 | SLC33A1 | Sarah Leigh Publications for gene: SLC33A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.449 | SLC25A24 | Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome 612289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.449 | SLC25A24 | Sarah Leigh Publications for gene: SLC25A24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.448 | SLC25A10 | Sarah Leigh Publications for gene: SLC25A10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.447 | SEPSECS | Sarah Leigh Publications for gene: SEPSECS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.446 | PTRH2 | Sarah Leigh Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.446 | PTRH2 | Sarah Leigh Publications for gene: PTRH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.445 | PDE12 | Sarah Leigh Publications for gene: PDE12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.444 | PAM16 | Sarah Leigh Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.444 | PAM16 | Sarah Leigh Publications for gene: PAM16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.443 | NAXD | Sarah Leigh Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.443 | NAXD | Sarah Leigh Publications for gene: NAXD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.442 | MICU2 | Sarah Leigh Phenotypes for gene: MICU2 were changed from to severe cognitive impairment and spasticity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.442 | MICU2 | Sarah Leigh Publications for gene: MICU2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.441 | KIF5A | Sarah Leigh Phenotypes for gene: KIF5A were changed from to Myoclonus, intractable, neonatal 617235; Spastic paraplegia 10, autosomal dominant 604187; {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.441 | KIF5A | Sarah Leigh Publications for gene: KIF5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.440 | HSPE1 | Sarah Leigh Publications for gene: HSPE1 were set to 29903433; 27774450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.440 | HSPE1 | Sarah Leigh Phenotypes for gene: HSPE1 were changed from to Neurological and Developmental Disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.440 | HSPE1 | Sarah Leigh Publications for gene: HSPE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.439 | GUF1 | Sarah Leigh Phenotypes for gene: GUF1 were changed from to ?Epileptic encephalopathy, early infantile, 40 617065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.439 | GUF1 | Sarah Leigh Publications for gene: GUF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.438 | FGF12 | Sarah Leigh Phenotypes for gene: FGF12 were changed from Epileptic encephalopathy, early infantile, 47 617166 to Epileptic encephalopathy, early infantile, 47 617166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.437 | FGF12 | Sarah Leigh Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47 617166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.437 | FGF12 | Sarah Leigh Publications for gene: FGF12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.436 | FA2H | Sarah Leigh Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive 612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.436 | FA2H | Sarah Leigh Publications for gene: FA2H were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.435 | DIAPH1 | Sarah Leigh Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.435 | DIAPH1 | Sarah Leigh Publications for gene: DIAPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.434 | DIABLO | Sarah Leigh Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64 614152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.434 | DIABLO | Sarah Leigh Publications for gene: DIABLO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.433 | CYP24A1 | Sarah Leigh Phenotypes for gene: CYP24A1 were changed from to Hypercalcemia, infantile, 1 143880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.433 | CYP24A1 | Sarah Leigh Publications for gene: CYP24A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.432 | CTBP1 | Sarah Leigh Phenotypes for gene: CTBP1 were changed from to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.432 | CTBP1 | Sarah Leigh Publications for gene: CTBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.431 | CRAT | Sarah Leigh Phenotypes for gene: CRAT were changed from to ?Neurodegeneration with brain iron accumulation 8 617917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.431 | CRAT | Sarah Leigh Publications for gene: CRAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.430 | CLPX | Sarah Leigh Phenotypes for gene: CLPX were changed from to ?Protoporphyria, erythropoietic, 2 618015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.430 | CLPX | Sarah Leigh Publications for gene: CLPX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.429 | BDH1 | Sarah Leigh Publications for gene: BDH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077).; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.17 |
Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209 to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract Panel types changed to Rare Disease 100K |
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| Inherited polyposis and early onset colorectal cancer - germline testing v0.53 | Ivone Leong List of related panels changed from R211 to R211; R209 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh Publications for gene: USMG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.427 | ALDH18A1 | Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.427 | ALDH18A1 | Sarah Leigh Publications for gene: ALDH18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.426 | ALAS2 | Sarah Leigh Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.426 | ALAS2 | Sarah Leigh Publications for gene: ALAS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.425 | ABCB6 | Sarah Leigh Phenotypes for gene: ABCB6 were changed from to Dyschromatosis universalis hereditaria 3 615402; Microphthalmia, isolated, with coloboma 7 614497; Pseudohyperkalemia, familial, 2, due to red cell leak 609153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.425 | ABCB6 | Sarah Leigh Publications for gene: ABCB6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.424 | AK2 |
Sarah Leigh changed review comment from: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.; to: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported. However, the phenotype (reticular dysgenesis) is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow). |
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| Mitochondrial disorders v1.424 | AK2 | Sarah Leigh Phenotypes for gene: AK2 were changed from to Reticular dysgenesis 267500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.424 | AK2 | Sarah Leigh Publications for gene: AK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | XRCC4 | Sarah Leigh reviewed gene: XRCC4: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | TRAK1 | Sarah Leigh reviewed gene: TRAK1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | STXBP1 | Sarah Leigh reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Epileptic encephalopathy, early infantile, 4 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC44A1 | Sarah Leigh reviewed gene: SLC44A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28097321; Phenotypes: mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC39A8 | Sarah Leigh reviewed gene: SLC39A8: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital disorder of glycosylation, type IIn 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC33A1 | Sarah Leigh reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, Spastic paraplegia 42, autosomal dominant 612539 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC25A24 | Sarah Leigh reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29100093, 29100094; Phenotypes: Fontaine progeroid syndrome 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC25A10 | Sarah Leigh reviewed gene: SLC25A10: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29211846 ; Phenotypes: intractable epileptic encephalopathy with complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SEPSECS | Sarah Leigh reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SECISBP2 | Sarah Leigh reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29882503, 16228000; Phenotypes: Thyroid hormone metabolism, abnormal 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PTRH2 | Sarah Leigh reviewed gene: PTRH2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28328138, 31057140, 25558065; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PLA2G6 | Sarah Leigh reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Infantile neuroaxonal dystrophy 1 256600, Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PDE12 | Sarah Leigh reviewed gene: PDE12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28745585; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PAM16 | Sarah Leigh reviewed gene: PAM16: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | NAXD | Sarah Leigh reviewed gene: NAXD: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | MICU2 | Sarah Leigh reviewed gene: MICU2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29053821; Phenotypes: severe cognitive impairment and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | KIF5A | Sarah Leigh reviewed gene: KIF5A: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Myoclonus, intractable, neonatal 617235, Spastic paraplegia 10, autosomal dominant 604187, {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | IARS | Sarah Leigh reviewed gene: IARS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | HSPE1 | Sarah Leigh reviewed gene: HSPE1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27774450; Phenotypes: Neurological and Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | GUF1 | Sarah Leigh reviewed gene: GUF1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 26486472; Phenotypes: ?Epileptic encephalopathy, early infantile, 40 617065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | FGF12 | Sarah Leigh reviewed gene: FGF12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27164707, 27872899; Phenotypes: Epileptic encephalopathy, early infantile, 47 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | FA2H | Sarah Leigh reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Spastic paraplegia 35, autosomal recessive 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | DIAPH1 | Sarah Leigh reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27808407, 26912466; Phenotypes: Deafness, autosomal dominant 1 124900, Seizures, cortical blindness, microcephaly syndrome 616632; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | DIABLO | Sarah Leigh reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 23510774; Phenotypes: Deafness, autosomal dominant 64 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | CYP24A1 | Sarah Leigh reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Hypercalcemia, infantile, 1 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | CTBP1 | Sarah Leigh reviewed gene: CTBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27094857, 29291004; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | CRAT | Sarah Leigh reviewed gene: CRAT: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29395073; Phenotypes: ?Neurodegeneration with brain iron accumulation 8 617917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | CLPX | Sarah Leigh reviewed gene: CLPX: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28874591, 25957689; Phenotypes: ?Protoporphyria, erythropoietic, 2 618015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | BDH1 | Sarah Leigh reviewed gene: BDH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29501613, 21285140 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | USMG5 | Sarah Leigh reviewed gene: USMG5: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29917077, 30240627; Phenotypes: Autosomal recessive Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | ALDH18A1 | Sarah Leigh reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | ALAS2 | Sarah Leigh reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | AK2 | Sarah Leigh reviewed gene: AK2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 19043417; Phenotypes: Reticular dysgenesis 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | ABCB6 | Sarah Leigh reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Dyschromatosis universalis hereditaria 3 615402, Microphthalmia, isolated, with coloboma 7 614497, Pseudohyperkalemia, familial, 2, due to red cell leak 609153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | XRCC4 |
Sarah Leigh gene: XRCC4 was added gene: XRCC4 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: XRCC4 was set to |
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| Mitochondrial disorders v1.422 | TRAK1 |
Sarah Leigh gene: TRAK1 was added gene: TRAK1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: TRAK1 was set to |
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| Mitochondrial disorders v1.422 | STXBP1 |
Sarah Leigh gene: STXBP1 was added gene: STXBP1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: STXBP1 was set to |
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| Mitochondrial disorders v1.422 | SLC44A1 |
Sarah Leigh gene: SLC44A1 was added gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC44A1 was set to |
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| Mitochondrial disorders v1.422 | SLC39A8 |
Sarah Leigh gene: SLC39A8 was added gene: SLC39A8 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC39A8 was set to |
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| Mitochondrial disorders v1.422 | SLC33A1 |
Sarah Leigh gene: SLC33A1 was added gene: SLC33A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC33A1 was set to |
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| Mitochondrial disorders v1.422 | SLC25A24 |
Sarah Leigh gene: SLC25A24 was added gene: SLC25A24 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC25A24 was set to |
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| Mitochondrial disorders v1.422 | SLC25A10 |
Sarah Leigh gene: SLC25A10 was added gene: SLC25A10 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC25A10 was set to |
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| Mitochondrial disorders v1.422 | SEPSECS |
Sarah Leigh gene: SEPSECS was added gene: SEPSECS was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SEPSECS was set to |
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| Mitochondrial disorders v1.422 | SECISBP2 |
Sarah Leigh gene: SECISBP2 was added gene: SECISBP2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SECISBP2 was set to |
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| Mitochondrial disorders v1.422 | PTRH2 |
Sarah Leigh gene: PTRH2 was added gene: PTRH2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PTRH2 was set to |
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| Mitochondrial disorders v1.422 | PLA2G6 |
Sarah Leigh gene: PLA2G6 was added gene: PLA2G6 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to |
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| Mitochondrial disorders v1.422 | PDE12 |
Sarah Leigh gene: PDE12 was added gene: PDE12 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PDE12 was set to |
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| Mitochondrial disorders v1.422 | PAM16 |
Sarah Leigh gene: PAM16 was added gene: PAM16 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PAM16 was set to |
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| Mitochondrial disorders v1.422 | NAXD |
Sarah Leigh gene: NAXD was added gene: NAXD was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: NAXD was set to |
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| Mitochondrial disorders v1.422 | MICU2 |
Sarah Leigh gene: MICU2 was added gene: MICU2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: MICU2 was set to |
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| Mitochondrial disorders v1.422 | KIF5A |
Sarah Leigh gene: KIF5A was added gene: KIF5A was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: KIF5A was set to |
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| Mitochondrial disorders v1.422 | IARS |
Sarah Leigh gene: IARS was added gene: IARS was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: IARS was set to |
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| Mitochondrial disorders v1.422 | HSPE1 |
Sarah Leigh gene: HSPE1 was added gene: HSPE1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: HSPE1 was set to |
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| Mitochondrial disorders v1.422 | GUF1 |
Sarah Leigh gene: GUF1 was added gene: GUF1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: GUF1 was set to |
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| Mitochondrial disorders v1.422 | FGF12 |
Sarah Leigh gene: FGF12 was added gene: FGF12 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: FGF12 was set to |
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| Mitochondrial disorders v1.422 | FA2H |
Sarah Leigh gene: FA2H was added gene: FA2H was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: FA2H was set to |
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| Mitochondrial disorders v1.422 | DIAPH1 |
Sarah Leigh gene: DIAPH1 was added gene: DIAPH1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to |
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| Mitochondrial disorders v1.422 | DIABLO |
Sarah Leigh gene: DIABLO was added gene: DIABLO was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: DIABLO was set to |
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| Mitochondrial disorders v1.422 | CYP24A1 |
Sarah Leigh gene: CYP24A1 was added gene: CYP24A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CYP24A1 was set to |
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| Mitochondrial disorders v1.422 | CTBP1 |
Sarah Leigh gene: CTBP1 was added gene: CTBP1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CTBP1 was set to |
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| Mitochondrial disorders v1.422 | CRAT |
Sarah Leigh gene: CRAT was added gene: CRAT was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CRAT was set to |
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| Mitochondrial disorders v1.422 | CLPX |
Sarah Leigh gene: CLPX was added gene: CLPX was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CLPX was set to |
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| Mitochondrial disorders v1.422 | BDH1 |
Sarah Leigh gene: BDH1 was added gene: BDH1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: BDH1 was set to |
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| Mitochondrial disorders v1.422 | USMG5 |
Sarah Leigh gene: USMG5 was added gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: USMG5 was set to |
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| Mitochondrial disorders v1.422 | ALDH18A1 |
Sarah Leigh gene: ALDH18A1 was added gene: ALDH18A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to |
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| Mitochondrial disorders v1.422 | ALAS2 |
Sarah Leigh gene: ALAS2 was added gene: ALAS2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALAS2 was set to |
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| Mitochondrial disorders v1.422 | AK2 |
Sarah Leigh gene: AK2 was added gene: AK2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: AK2 was set to |
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| Mitochondrial disorders v1.422 | ABCB6 |
Sarah Leigh gene: ABCB6 was added gene: ABCB6 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ABCB6 was set to |
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| Intellectual disability v2.995 | POU3F3 | Catherine Snow Publications for gene: POU3F3 were set to https://doi.org/10.1016/j.ajhg.2019.06.007; 24550763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Added comment: Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.994 | SHANK1 | Catherine Snow Classified gene: SHANK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.994 | SHANK1 | Catherine Snow Gene: shank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.993 | SHANK1 | Catherine Snow reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 30053575, 20868654; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.8 | Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.21 | Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.38 | PKD1 | Louise Daugherty Added comment: Comment on mode of inheritance: As a result of updating the mode of inheritance for PKD1 from monoallelic > TO> BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal by PanelApp curation team for renal panels, it was flagged with clinical team about other non-renal panels and it was decided that it also applied to the Cerebral vascular malformation panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.38 | PKD1 | Louise Daugherty Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited pancreatic cancer v0.29 | Ivone Leong List of related panels changed from to R367 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | SUMF1 | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | MCOLN1 | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GLB1 | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GLB1 | Carol Hardy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GM2A | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GM2A | Carol Hardy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.327 | RAC1 | Rebecca Foulger Publications for gene: RAC1 were set to 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.148 | IDH3A | Ivone Leong Classified gene: IDH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.148 | IDH3A | Ivone Leong Gene: idh3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.147 | IDH3A |
Ivone Leong gene: IDH3A was added gene: IDH3A was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH3A were set to 28412069; 30478029 Phenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma Review for gene: IDH3A was set to GREEN Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status. Sources: Expert list |
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| Adult solid tumours cancer susceptibility v1.5 | SOS2 | Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RIT1 | Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PPP1CB | Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | LZTR1 | Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SPRED1 | Ivone Leong commented on gene: SPRED1: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, this gene does not appear to predispose patients to cancer so therefore this has been rated red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MAP2K2 | Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MAP2K1 | Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BRAF | Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SOS1 | Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SHOC2 | Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RAF1 | Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PTPN11 | Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | NRAS | Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | KRAS | Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | HRAS | Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCL | Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCI | Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCG | Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCF | Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCE | Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCD2 | Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCC | Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCB | Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FANCA | Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | WRAP53 | Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TERC | Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SPRED1 | Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | POLH | Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ACD | Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | XPC | Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | XPA | Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TERT | Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MAP2K2 | Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MAP2K1 | Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ERCC5 | Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ERCC3 | Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ERCC2 | Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | DDB2 | Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BRAF | Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SOS1 | Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SHOC2 | Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RAF1 | Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PTPN11 | Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | NRAS | Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | KRAS | Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | HRAS | Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ERCC4 | Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CBL | Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CBL | Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | WT1 | Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | VHL | Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TSC2 | Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TSC1 | Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TP53 | Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | TMEM127 | Ivone Leong reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SUFU | Ivone Leong reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | STK11 | Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SMARCB1 | Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SMARCA4 | Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SDHD | Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SDHC | Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SDHB | Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SDHAF2 | Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | SDHA | Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RET | Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RB1 | Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RAD51D | Ivone Leong reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | RAD51C | Ivone Leong reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PTEN | Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | POLE | Ivone Leong reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | POLD1 | Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PMS2 | Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | PALB2 | Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | NTHL1 | Ivone Leong reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | NF2 | Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | NF1 | Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MUTYH | Ivone Leong reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MSH6 | Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MSH2 | Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MLH1 | Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MET | Ivone Leong reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MEN1 | Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | MAX | Ivone Leong reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | KIT | Ivone Leong reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FLCN | Ivone Leong reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | FH | Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | EPCAM | Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | DICER1 | Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CDKN2A | Ivone Leong reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CDKN1B | Ivone Leong reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CDK4 | Ivone Leong reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CDH1 | Ivone Leong reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | CDC73 | Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BRIP1 | Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BRCA2 | Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BRCA1 | Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BMPR1A | Ivone Leong reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | BAP1 | Ivone Leong reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | ATM | Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.5 | APC | Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SLX4 |
Ivone Leong gene: SLX4 was added gene: SLX4 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951 |
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| Adult solid tumours cancer susceptibility v1.4 | FANCL |
Ivone Leong gene: FANCL was added gene: FANCL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 19686080 Phenotypes for gene: FANCL were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCI |
Ivone Leong gene: FANCI was added gene: FANCI was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 19686080 Phenotypes for gene: FANCI were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCG |
Ivone Leong gene: FANCG was added gene: FANCG was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 19686080 Phenotypes for gene: FANCG were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCF |
Ivone Leong gene: FANCF was added gene: FANCF was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 19686080 Phenotypes for gene: FANCF were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCE |
Ivone Leong gene: FANCE was added gene: FANCE was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 19686080 Phenotypes for gene: FANCE were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCD2 |
Ivone Leong gene: FANCD2 was added gene: FANCD2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 19686080 Phenotypes for gene: FANCD2 were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCC |
Ivone Leong gene: FANCC was added gene: FANCC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 19686080 Phenotypes for gene: FANCC were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | FANCB |
Ivone Leong gene: FANCB was added gene: FANCB was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 |
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| Adult solid tumours cancer susceptibility v1.4 | FANCA |
Ivone Leong gene: FANCA was added gene: FANCA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 19686080 Phenotypes for gene: FANCA were set to Fanconi Anemia |
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| Adult solid tumours cancer susceptibility v1.4 | WRAP53 |
Ivone Leong gene: WRAP53 was added gene: WRAP53 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 22285015 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 |
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| Adult solid tumours cancer susceptibility v1.4 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990 |
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| Adult solid tumours cancer susceptibility v1.4 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 22285015 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550 |
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| Adult solid tumours cancer susceptibility v1.4 | SPRED1 |
Ivone Leong gene: SPRED1 was added gene: SPRED1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 23875798 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
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| Adult solid tumours cancer susceptibility v1.4 | NOP10 |
Ivone Leong gene: NOP10 was added gene: NOP10 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis Congenita |
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| Adult solid tumours cancer susceptibility v1.4 | POLH |
Ivone Leong gene: POLH was added gene: POLH was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750 |
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| Adult solid tumours cancer susceptibility v1.4 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
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| Adult solid tumours cancer susceptibility v1.4 | PARN |
Ivone Leong gene: PARN was added gene: PARN was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
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| Adult solid tumours cancer susceptibility v1.4 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353 |
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| Adult solid tumours cancer susceptibility v1.4 | CTC1 |
Ivone Leong gene: CTC1 was added gene: CTC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome |
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| Adult solid tumours cancer susceptibility v1.4 | ACD |
Ivone Leong gene: ACD was added gene: ACD was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904; 25205116 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7 |
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| Adult solid tumours cancer susceptibility v1.4 | SOS2 |
Ivone Leong gene: SOS2 was added gene: SOS2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559 |
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| Adult solid tumours cancer susceptibility v1.4 | RIT1 |
Ivone Leong gene: RIT1 was added gene: RIT1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 |
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| Adult solid tumours cancer susceptibility v1.4 | PPP1CB |
Ivone Leong gene: PPP1CB was added gene: PPP1CB was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 |
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| Adult solid tumours cancer susceptibility v1.4 | LZTR1 |
Ivone Leong gene: LZTR1 was added gene: LZTR1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 |
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| Adult solid tumours cancer susceptibility v1.4 | XPC |
Ivone Leong gene: XPC was added gene: XPC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 21097776; 26975629; 30565713 Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 |
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| Adult solid tumours cancer susceptibility v1.4 | XPA |
Ivone Leong gene: XPA was added gene: XPA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 21097776; 26975629; 30565713 Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 |
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| Adult solid tumours cancer susceptibility v1.4 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 22285015 Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 |
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| Adult solid tumours cancer susceptibility v1.4 | MAP2K2 |
Ivone Leong gene: MAP2K2 was added gene: MAP2K2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP2K2 were set to 23875798 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280 |
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| Adult solid tumours cancer susceptibility v1.4 | MAP2K1 |
Ivone Leong gene: MAP2K1 was added gene: MAP2K1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP2K1 were set to 23875798 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome |
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| Adult solid tumours cancer susceptibility v1.4 | ERCC5 |
Ivone Leong gene: ERCC5 was added gene: ERCC5 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391 Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 |
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| Adult solid tumours cancer susceptibility v1.4 | ERCC3 |
Ivone Leong gene: ERCC3 was added gene: ERCC3 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 26884178; 16947863 Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum, group B, 610651 |
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| Adult solid tumours cancer susceptibility v1.4 | ERCC2 |
Ivone Leong gene: ERCC2 was added gene: ERCC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 26884178; 28376890 Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730 |
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| Adult solid tumours cancer susceptibility v1.4 | ERCC1 |
Ivone Leong gene: ERCC1 was added gene: ERCC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 |
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| Adult solid tumours cancer susceptibility v1.4 | DDB2 |
Ivone Leong gene: DDB2 was added gene: DDB2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDB2 were set to 12812979; 21107348; 26884178; 104693112 Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 |
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| Adult solid tumours cancer susceptibility v1.4 | BRAF |
Ivone Leong gene: BRAF was added gene: BRAF was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 23875798 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 |
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| Adult solid tumours cancer susceptibility v1.4 | SOS1 |
Ivone Leong gene: SOS1 was added gene: SOS1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS1 were set to 23875798 Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733 |
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| Adult solid tumours cancer susceptibility v1.4 | SHOC2 |
Ivone Leong gene: SHOC2 was added gene: SHOC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHOC2 were set to 23875798 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair |
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| Adult solid tumours cancer susceptibility v1.4 | RAF1 |
Ivone Leong gene: RAF1 was added gene: RAF1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAF1 were set to 23875798 Phenotypes for gene: RAF1 were set to LEOPARD syndrome 2 611554; Noonan syndrome 5 611553 |
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| Adult solid tumours cancer susceptibility v1.4 | PTPN11 |
Ivone Leong gene: PTPN11 was added gene: PTPN11 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTPN11 were set to 23875798 Phenotypes for gene: PTPN11 were set to Noonan syndrome |
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| Adult solid tumours cancer susceptibility v1.4 | NRAS |
Ivone Leong gene: NRAS was added gene: NRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRAS were set to 23875798 Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome |
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| Adult solid tumours cancer susceptibility v1.4 | KRAS |
Ivone Leong gene: KRAS was added gene: KRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRAS were set to 23875798 Phenotypes for gene: KRAS were set to Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278 |
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| Adult solid tumours cancer susceptibility v1.4 | HRAS |
Ivone Leong gene: HRAS was added gene: HRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 23875798 Phenotypes for gene: HRAS were set to Costello syndrome |
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| Adult solid tumours cancer susceptibility v1.4 | ERCC4 |
Ivone Leong gene: ERCC4 was added gene: ERCC4 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 |
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| Adult solid tumours cancer susceptibility v1.4 | CBL |
Ivone Leong gene: CBL was added gene: CBL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 23875798 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 |
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| Adult solid tumours cancer susceptibility v1.4 | EXT2 | Ivone Leong Source NHS GMS was added to EXT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | EXT1 | Ivone Leong Source NHS GMS was added to EXT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CHEK2 | Ivone Leong Source NHS GMS was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | AIP | Ivone Leong Source NHS GMS was added to AIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | WT1 | Ivone Leong Source NHS GMS was added to WT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | VHL | Ivone Leong Source NHS GMS was added to VHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | TSC2 | Ivone Leong Source NHS GMS was added to TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | TSC1 | Ivone Leong Source NHS GMS was added to TSC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | TP53 | Ivone Leong Source NHS GMS was added to TP53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | TMEM127 | Ivone Leong Source NHS GMS was added to TMEM127. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SUFU | Ivone Leong Source NHS GMS was added to SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | STK11 | Ivone Leong Source NHS GMS was added to STK11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SMARCB1 | Ivone Leong Source NHS GMS was added to SMARCB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SMARCA4 | Ivone Leong Source NHS GMS was added to SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SMAD4 | Ivone Leong Source NHS GMS was added to SMAD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SDHD | Ivone Leong Source NHS GMS was added to SDHD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SDHC | Ivone Leong Source NHS GMS was added to SDHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SDHB | Ivone Leong Source NHS GMS was added to SDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SDHAF2 | Ivone Leong Source NHS GMS was added to SDHAF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | SDHA | Ivone Leong Source NHS GMS was added to SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | RET | Ivone Leong Source NHS GMS was added to RET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | RB1 | Ivone Leong Source NHS GMS was added to RB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | RAD51D | Ivone Leong Source NHS GMS was added to RAD51D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | RAD51C | Ivone Leong Source NHS GMS was added to RAD51C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | PTEN | Ivone Leong Source NHS GMS was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | PTCH1 | Ivone Leong Source NHS GMS was added to PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | POLE | Ivone Leong Source NHS GMS was added to POLE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | POLD1 | Ivone Leong Source NHS GMS was added to POLD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | PMS2 | Ivone Leong Source NHS GMS was added to PMS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | PALB2 | Ivone Leong Source NHS GMS was added to PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | NTHL1 | Ivone Leong Source NHS GMS was added to NTHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | NF2 | Ivone Leong Source NHS GMS was added to NF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | NF1 | Ivone Leong Source NHS GMS was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MUTYH | Ivone Leong Source NHS GMS was added to MUTYH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MSH6 | Ivone Leong Source NHS GMS was added to MSH6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MSH2 | Ivone Leong Source NHS GMS was added to MSH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MLH1 | Ivone Leong Source NHS GMS was added to MLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MET | Ivone Leong Source NHS GMS was added to MET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MEN1 | Ivone Leong Source NHS GMS was added to MEN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | MAX | Ivone Leong Source NHS GMS was added to MAX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | KIT | Ivone Leong Source NHS GMS was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | FLCN | Ivone Leong Source NHS GMS was added to FLCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | FH | Ivone Leong Source NHS GMS was added to FH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | EPCAM | Ivone Leong Source NHS GMS was added to EPCAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | DICER1 | Ivone Leong Source NHS GMS was added to DICER1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CDKN2A | Ivone Leong Source NHS GMS was added to CDKN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CDKN1B | Ivone Leong Source NHS GMS was added to CDKN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CDK4 | Ivone Leong Source NHS GMS was added to CDK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CDH1 | Ivone Leong Source NHS GMS was added to CDH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CDC73 | Ivone Leong Source NHS GMS was added to CDC73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | BRIP1 | Ivone Leong Source NHS GMS was added to BRIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | BRCA2 | Ivone Leong Source NHS GMS was added to BRCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | BRCA1 | Ivone Leong Source NHS GMS was added to BRCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | BMPR1A | Ivone Leong Source NHS GMS was added to BMPR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | BAP1 | Ivone Leong Source NHS GMS was added to BAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | ATM | Ivone Leong Source NHS GMS was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | APC | Ivone Leong Source NHS GMS was added to APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | NTHL1 | Ivone Leong Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | GREM1 | Ivone Leong Added phenotypes Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) for gene: GREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | STK11 | Ivone Leong Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | SMAD4 | Ivone Leong Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | PTEN | Ivone Leong Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | POLE | Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | POLD1 | Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | PMS2 | Ivone Leong Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR for gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MUTYH | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 for gene: MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MSH6 | Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 for gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MSH2 | Ivone Leong Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | MLH1 | Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD for gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | EPCAM | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | BMPR1A | Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis for gene: BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | APC | Ivone Leong Added phenotypes Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 for gene: APC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.28 | Ivone Leong List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome; R359 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SOS2 | Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RIT1 | Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PPP1CB | Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | LZTR1 | Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | WRAP53 | Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TERC | Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BRCA1 | Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SPRED1 | Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SPRED1 | Anna de Burca reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | POLH | Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ACD | Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | XPC | Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | XPA | Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TERT | Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MAP2K2 | Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MAP2K2 | Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MAP2K1 | Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MAP2K1 | Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ERCC5 | Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ERCC3 | Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ERCC2 | Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | DDB2 | Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BRAF | Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BRAF | Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | WT1 | Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | WRN | Ivone Leong reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | VHL | Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TSC2 | Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TSC1 | Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TRIP13 | Ivone Leong reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TRIM37 | Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | TP53 | Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SUFU | Ivone Leong commented on gene: SUFU: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | STK11 | Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SOS1 | Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SOS1 | Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SMARCB1 | Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SMARCA4 | Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SLX4 | Ivone Leong reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SHOC2 | Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | SHOC2 | Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RET | Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | REST | Ivone Leong reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RECQL4 | Ivone Leong reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RB1 | Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RAF1 | Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | RAF1 | Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PTPN11 | Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PTPN11 | Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PTEN | Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PRKAR1A | Ivone Leong reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PMS2 | Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PHOX2B | Ivone Leong reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PDGFRB | Ivone Leong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PDGFRA | Ivone Leong commented on gene: PDGFRA: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PALB2 | Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NSD1 | Ivone Leong reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NRAS | Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NRAS | Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NF2 | Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NF1 | Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NF1 | Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | NBN | Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MSH6 | Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MSH2 | Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MLH1 | Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | MEN1 | Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | KRAS | Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | KRAS | Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | HRAS | Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | HRAS | Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | GPC3 | Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCL | Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCI | Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCG | Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCF | Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCE | Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCD2 | Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCC | Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCB | Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | FANCA | Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | EZH2 | Ivone Leong reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ERCC4 | Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | DIS3L2 | Ivone Leong reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | DICER1 | Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | CDKN1C | Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | CDC73 | Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | CBL | Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | CBL | Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BUB1B | Ivone Leong reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BRIP1 | Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BRCA2 | Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BMPR1A | Ivone Leong commented on gene: BMPR1A: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | BLM | Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ATM | Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | APC | Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | ALK | Ivone Leong reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.26 | WRAP53 |
Ivone Leong gene: WRAP53 was added gene: WRAP53 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 22285015 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 |
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| Childhood solid tumours v1.26 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990 |
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| Childhood solid tumours v1.26 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 22285015 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550 |
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| Childhood solid tumours v1.26 | BRCA1 |
Ivone Leong Source Expert Review Green was added to BRCA1. Source NHS GMS was added to BRCA1. Mode of inheritance for gene BRCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA1 Publications for gene BRCA1 were changed from to 23788249 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | SPRED1 |
Ivone Leong gene: SPRED1 was added gene: SPRED1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 23875798 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
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| Childhood solid tumours v1.26 | NOP10 |
Ivone Leong Source NHS GMS was added to NOP10. Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NOP10 Publications for gene NOP10 were changed from to 22965356 |
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| Childhood solid tumours v1.26 | NHP2 |
Ivone Leong Source NHS GMS was added to NHP2. Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyskeratosis Congenita for gene: NHP2 Publications for gene NHP2 were changed from to 22965356 |
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| Childhood solid tumours v1.26 | POLH |
Ivone Leong gene: POLH was added gene: POLH was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750 |
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| Childhood solid tumours v1.26 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664; 23329068; 23959892; 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
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| Childhood solid tumours v1.26 | PARN |
Ivone Leong gene: PARN was added gene: PARN was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PARN were set to 25893599; 26342108; 25848748 Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
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| Childhood solid tumours v1.26 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 12522253; 11379875; 20587522; 31027506; 18005359; 9888995; 10364516 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353 |
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| Childhood solid tumours v1.26 | CTC1 |
Ivone Leong gene: CTC1 was added gene: CTC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22387016; 22899577; 22267198; 22532422 Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome |
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| Childhood solid tumours v1.26 | ACD |
Ivone Leong gene: ACD was added gene: ACD was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904; 25205116 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7 |
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| Childhood solid tumours v1.26 | SOS2 |
Ivone Leong gene: SOS2 was added gene: SOS2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559 |
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| Childhood solid tumours v1.26 | RIT1 |
Ivone Leong gene: RIT1 was added gene: RIT1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 |
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| Childhood solid tumours v1.26 | PPP1CB |
Ivone Leong gene: PPP1CB was added gene: PPP1CB was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 |
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| Childhood solid tumours v1.26 | LZTR1 |
Ivone Leong gene: LZTR1 was added gene: LZTR1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 |
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| Childhood solid tumours v1.26 | XPC |
Ivone Leong Source Expert Review Green was added to XPC. Source NHS GMS was added to XPC. Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group C, 278720 for gene: XPC Publications for gene XPC were changed from to 21097776; 22044607; 26975629; 30565713 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | XPA |
Ivone Leong Source Expert Review Green was added to XPA. Source NHS GMS was added to XPA. Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA Publications for gene XPA were changed from to 21097776; 26975629; 30565713; 26884178 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | TERT |
Ivone Leong Source Expert Review Green was added to TERT. Source NHS GMS was added to TERT. Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT Publications for gene TERT were changed from to 22965356; 22285015 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | RAD51C |
Ivone Leong Source NHS GMS was added to RAD51C. Added phenotypes Fanconi Anemia for gene: RAD51C Publications for gene RAD51C were changed from to 19686080 |
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| Childhood solid tumours v1.26 | MAP2K2 |
Ivone Leong Source NHS GMS was added to MAP2K2. Source Expert Review Amber was added to MAP2K2. Mode of inheritance for gene MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood solid tumours v1.26 | MAP2K1 |
Ivone Leong Source NHS GMS was added to MAP2K1. Source Expert Review Amber was added to MAP2K1. Mode of inheritance for gene MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1 Publications for gene MAP2K1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood solid tumours v1.26 | ERCC5 |
Ivone Leong Source Expert Review Green was added to ERCC5. Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group G, 278780 for gene: ERCC5 Publications for gene ERCC5 were changed from to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | ERCC3 |
Ivone Leong Source Expert Review Green was added to ERCC3. Source NHS GMS was added to ERCC3. Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group B, 610651 for gene: ERCC3 Publications for gene ERCC3 were changed from to 26884178; 16947863 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | ERCC2 |
Ivone Leong Source Expert Review Green was added to ERCC2. Source NHS GMS was added to ERCC2. Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group D, 278730 for gene: ERCC2 Publications for gene ERCC2 were changed from to 26884178; 28376890 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | ERCC1 |
Ivone Leong Source NHS GMS was added to ERCC1. Source Expert Review Amber was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 for gene: ERCC1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood solid tumours v1.26 | DDB2 |
Ivone Leong Source Expert Review Green was added to DDB2. Source NHS GMS was added to DDB2. Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 for gene: DDB2 Publications for gene DDB2 were changed from to 12812979; 21107348; 26884178; 104693112 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | BRAF |
Ivone Leong Source NHS GMS was added to BRAF. Source Expert Review Amber was added to BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 for gene: BRAF Publications for gene BRAF were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood solid tumours v1.26 | WT1 |
Ivone Leong Source NHS GMS was added to WT1. Mode of inheritance for gene WT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Wilms tumor for gene: WT1 Publications for gene WT1 were changed from 15483024 to 23788249 |
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| Childhood solid tumours v1.26 | WRN |
Ivone Leong Source NHS GMS was added to WRN. Added phenotypes Werner Syndrome for gene: WRN Publications for gene WRN were changed from to 10440702 |
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| Childhood solid tumours v1.26 | VHL |
Ivone Leong Source NHS GMS was added to VHL. Mode of inheritance for gene VHL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Paraganglioma and Pheochromocytoma for gene: VHL Publications for gene VHL were changed from to 23788249 |
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| Childhood solid tumours v1.26 | TSC2 |
Ivone Leong Source NHS GMS was added to TSC2. Mode of inheritance for gene TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 2 for gene: TSC2 Publications for gene TSC2 were changed from 24053982 to 23788249 |
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| Childhood solid tumours v1.26 | TSC1 |
Ivone Leong Source NHS GMS was added to TSC1. Mode of inheritance for gene TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 1 for gene: TSC1 Publications for gene TSC1 were changed from 24053982 to 23788249 |
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| Childhood solid tumours v1.26 | TRIP13 |
Ivone Leong Source NHS GMS was added to TRIP13. Added phenotypes Mosaic variegated aneuploidy syndrome 3 617598 for gene: TRIP13 |
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| Childhood solid tumours v1.26 | TRIM37 |
Ivone Leong Source NHS GMS was added to TRIM37. Added phenotypes Mulibrey nanism 253250 for gene: TRIM37 |
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| Childhood solid tumours v1.26 | TP53 |
Ivone Leong Source NHS GMS was added to TP53. Mode of inheritance for gene TP53 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Li Fraumeni Syndrome for gene: TP53 Publications for gene TP53 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | SUFU |
Ivone Leong Source NHS GMS was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes SUFU associated Medulloblastoma for gene: SUFU Publications for gene SUFU were changed from 19533801; 29186568; 22829011; 25403219 to 19533801 |
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| Childhood solid tumours v1.26 | STK11 |
Ivone Leong Source NHS GMS was added to STK11. Mode of inheritance for gene STK11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Peutz Jeghers syndrome for gene: STK11 Publications for gene STK11 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | SOS1 |
Ivone Leong Source Expert Review Green was added to SOS1. Source NHS GMS was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 4 610733 for gene: SOS1 Publications for gene SOS1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | SMARCB1 |
Ivone Leong Source NHS GMS was added to SMARCB1. Mode of inheritance for gene SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Atypical rhabdoid tumor predisposition for gene: SMARCB1 Publications for gene SMARCB1 were changed from 10521299 to 12016529 |
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| Childhood solid tumours v1.26 | SMARCA4 |
Ivone Leong Source NHS GMS was added to SMARCA4. Mode of inheritance for gene SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes predisposition to small cell ca; Ovary with hypercalcemia for gene: SMARCA4 Publications for gene SMARCA4 were changed from 20137775 to 24658002 |
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| Childhood solid tumours v1.26 | SMAD4 |
Ivone Leong Source NHS GMS was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Juvenile Polyposis; Hereditary Hemorrhagic Telangiectasia for gene: SMAD4 Publications for gene SMAD4 were changed from to 15754356 |
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| Childhood solid tumours v1.26 | SLX4 |
Ivone Leong Source NHS GMS was added to SLX4. Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4 |
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| Childhood solid tumours v1.26 | SHOC2 |
Ivone Leong Source Expert Review Green was added to SHOC2. Source NHS GMS was added to SHOC2. Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 Publications for gene SHOC2 were changed from to 19684605; 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | RET |
Ivone Leong Source NHS GMS was added to RET. Mode of inheritance for gene RET was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Multiple Endocrine Neoplasia for gene: RET Publications for gene RET were changed from 17963006 to 23788249 |
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| Childhood solid tumours v1.26 | REST |
Ivone Leong Source NHS GMS was added to REST. Added phenotypes {Wilms tumor 6, susceptibility to} 616806 for gene: REST |
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| Childhood solid tumours v1.26 | RECQL4 |
Ivone Leong Source NHS GMS was added to RECQL4. Added phenotypes Rothmund Thomson Syndrome for gene: RECQL4 Publications for gene RECQL4 were changed from 11471165 to 20503338 |
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| Childhood solid tumours v1.26 | RB1 |
Ivone Leong Source NHS GMS was added to RB1. Mode of inheritance for gene RB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Retinoblastoma for gene: RB1 Publications for gene RB1 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | RAF1 |
Ivone Leong Source Expert Review Green was added to RAF1. Source NHS GMS was added to RAF1. Mode of inheritance for gene RAF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes LEOPARD syndrome 2 611554; Noonan syndrome 5 611553 for gene: RAF1 Publications for gene RAF1 were changed from to 17603482; 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | PTPN11 |
Ivone Leong Source NHS GMS was added to PTPN11. Mode of inheritance for gene PTPN11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome for gene: PTPN11 Publications for gene PTPN11 were changed from 25683281 to 23926459; 23875798 |
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| Childhood solid tumours v1.26 | PTEN |
Ivone Leong Source NHS GMS was added to PTEN. Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cowden syndrome for gene: PTEN Publications for gene PTEN were changed from to 4635800 |
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| Childhood solid tumours v1.26 | PTCH1 |
Ivone Leong Source NHS GMS was added to PTCH1. Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gorlin syndrome for gene: PTCH1 Publications for gene PTCH1 were changed from 8326488 to 13851319 |
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| Childhood solid tumours v1.26 | PRKAR1A |
Ivone Leong Source Expert Review Green was added to PRKAR1A. Source NHS GMS was added to PRKAR1A. Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Primary Pigmented Nodular Adrenocortical disease; Carney Complex for gene: PRKAR1A Publications for gene PRKAR1A were changed from to 11115848 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | PMS2 |
Ivone Leong Source NHS GMS was added to PMS2. Added phenotypes CMMRD; Lynch Syndrome for gene: PMS2 Publications for gene PMS2 were changed from 17613548 to 23788249 |
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| Childhood solid tumours v1.26 | PHOX2B |
Ivone Leong Source NHS GMS was added to PHOX2B. Mode of inheritance for gene PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Clustering of Neuroblastoma for gene: PHOX2B Publications for gene PHOX2B were changed from to 22071890 |
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| Childhood solid tumours v1.26 | PDGFRB |
Ivone Leong Source NHS GMS was added to PDGFRB. Mode of inheritance for gene PDGFRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550 for gene: PDGFRB Publications for gene PDGFRB were changed from 23731537; 23731542 to 23731542; 23731537 |
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| Childhood solid tumours v1.26 | PDGFRA |
Ivone Leong Source NHS GMS was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA |
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| Childhood solid tumours v1.26 | PALB2 |
Ivone Leong Source NHS GMS was added to PALB2. Added phenotypes Fanconi Anemia for gene: PALB2 Publications for gene PALB2 were changed from to 17200671 |
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| Childhood solid tumours v1.26 | NSD1 |
Ivone Leong Source NHS GMS was added to NSD1. Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1 |
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| Childhood solid tumours v1.26 | NRAS |
Ivone Leong Source NHS GMS was added to NRAS. Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome for gene: NRAS Publications for gene NRAS were changed from to 23875798 |
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| Childhood solid tumours v1.26 | NF2 |
Ivone Leong Source NHS GMS was added to NF2. Mode of inheritance for gene NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acoustic neuroma for gene: NF2 Publications for gene NF2 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | NF1 |
Ivone Leong Source NHS GMS was added to NF1. Mode of inheritance for gene NF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1 Publications for gene NF1 were changed from to 18772890; 23875798 |
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| Childhood solid tumours v1.26 | NBN |
Ivone Leong Source NHS GMS was added to NBN. Added phenotypes Nijmegen Breakage Syndrome for gene: NBN Publications for gene NBN were changed from 22373003 to 12833396 |
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| Childhood solid tumours v1.26 | MSH6 |
Ivone Leong Source NHS GMS was added to MSH6. Added phenotypes CMMRD; Lynch Syndrome for gene: MSH6 Publications for gene MSH6 were changed from 17613548 to 23788249 |
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| Childhood solid tumours v1.26 | MSH2 |
Ivone Leong Source NHS GMS was added to MSH2. Added phenotypes CMMRD; Lynch Syndrome for gene: MSH2 Publications for gene MSH2 were changed from 17613548 to 23788249 |
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| Childhood solid tumours v1.26 | MLH1 |
Ivone Leong Source NHS GMS was added to MLH1. Added phenotypes CMMRD; Lynch Syndrome for gene: MLH1 Publications for gene MLH1 were changed from 17613548 to 23788249 |
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| Childhood solid tumours v1.26 | MEN1 |
Ivone Leong Source NHS GMS was added to MEN1. Mode of inheritance for gene MEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Multiple Endocrine Neoplasia for gene: MEN1 Publications for gene MEN1 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | KRAS |
Ivone Leong Source Expert Review Green was added to KRAS. Source NHS GMS was added to KRAS. Mode of inheritance for gene KRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278 for gene: KRAS Publications for gene KRAS were changed from to 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v1.26 | HRAS |
Ivone Leong Source NHS GMS was added to HRAS. Mode of inheritance for gene HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Costello syndrome for gene: HRAS Publications for gene HRAS were changed from to 23875798 |
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| Childhood solid tumours v1.26 | GPC3 |
Ivone Leong Source NHS GMS was added to GPC3. Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870; Wilms tumor, somatic, 194070 for gene: GPC3 |
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| Childhood solid tumours v1.26 | FANCL |
Ivone Leong Source NHS GMS was added to FANCL. Added phenotypes Fanconi Anemia for gene: FANCL Publications for gene FANCL were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCI |
Ivone Leong Source NHS GMS was added to FANCI. Added phenotypes Fanconi Anemia for gene: FANCI Publications for gene FANCI were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCG |
Ivone Leong Source NHS GMS was added to FANCG. Added phenotypes Fanconi Anemia for gene: FANCG Publications for gene FANCG were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCF |
Ivone Leong Source NHS GMS was added to FANCF. Added phenotypes Fanconi Anemia for gene: FANCF Publications for gene FANCF were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCE |
Ivone Leong Source NHS GMS was added to FANCE. Added phenotypes Fanconi Anemia for gene: FANCE Publications for gene FANCE were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCD2 |
Ivone Leong Source NHS GMS was added to FANCD2. Added phenotypes Fanconi Anemia for gene: FANCD2 Publications for gene FANCD2 were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCC |
Ivone Leong Source NHS GMS was added to FANCC. Added phenotypes Fanconi Anemia for gene: FANCC Publications for gene FANCC were changed from to 19686080 |
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| Childhood solid tumours v1.26 | FANCB |
Ivone Leong Source NHS GMS was added to FANCB. Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB |
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| Childhood solid tumours v1.26 | FANCA |
Ivone Leong Source NHS GMS was added to FANCA. Added phenotypes Fanconi Anemia for gene: FANCA Publications for gene FANCA were changed from to 19686080 |
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| Childhood solid tumours v1.26 | EZH2 |
Ivone Leong Source NHS GMS was added to EZH2. Added phenotypes Weaver syndrome, 277590 for gene: EZH2 |
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| Childhood solid tumours v1.26 | ERCC4 |
Ivone Leong Source NHS GMS was added to ERCC4. Added phenotypes Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 for gene: ERCC4 Publications for gene ERCC4 were changed from to 22044607 |
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| Childhood solid tumours v1.26 | DIS3L2 |
Ivone Leong Source NHS GMS was added to DIS3L2. Added phenotypes Perlman syndrome, 267000 for gene: DIS3L2 |
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| Childhood solid tumours v1.26 | DICER1 |
Ivone Leong Source NHS GMS was added to DICER1. Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes DICER1 syndrome; Familial Multinodular Goiter for gene: DICER1 Publications for gene DICER1 were changed from 19556464 to 21205968 |
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| Childhood solid tumours v1.26 | CDKN1C |
Ivone Leong Source NHS GMS was added to CDKN1C. Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C Publications for gene CDKN1C were changed from to 10424812 |
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| Childhood solid tumours v1.26 | CDC73 |
Ivone Leong Source NHS GMS was added to CDC73. Added phenotypes 145001 for gene: CDC73 |
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| Childhood solid tumours v1.26 | CBL |
Ivone Leong Source NHS GMS was added to CBL. Mode of inheritance for gene CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL Publications for gene CBL were changed from 20619386 to 23875798 |
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| Childhood solid tumours v1.26 | BUB1B |
Ivone Leong Source NHS GMS was added to BUB1B. Added phenotypes Mosaic variegated aneuploidy syndrome 1 257300 for gene: BUB1B |
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| Childhood solid tumours v1.26 | BRIP1 |
Ivone Leong Source NHS GMS was added to BRIP1. Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 21964575 |
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| Childhood solid tumours v1.26 | BRCA2 |
Ivone Leong Source NHS GMS was added to BRCA2. Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA2 Publications for gene BRCA2 were changed from to 23788249 |
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| Childhood solid tumours v1.26 | BMPR1A |
Ivone Leong Source NHS GMS was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditary Mixed Polyposis Syndrome for gene: BMPR1A Publications for gene BMPR1A were changed from 23539595; 12136244; 11536076; 11381269 to 23539595 |
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| Childhood solid tumours v1.26 | BLM |
Ivone Leong Source NHS GMS was added to BLM. Added phenotypes Bloom Syndrome for gene: BLM Publications for gene BLM were changed from 7585968 to 11257107 |
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| Childhood solid tumours v1.26 | ATM |
Ivone Leong Source NHS GMS was added to ATM. Added phenotypes Ataxia Telangiectasia for gene: ATM Publications for gene ATM were changed from 9463314 to 9288106 |
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| Childhood solid tumours v1.26 | APC |
Ivone Leong Source NHS GMS was added to APC. Mode of inheritance for gene APC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Adenomatous Polyposis for gene: APC Publications for gene APC were changed from 1658283 to 23788249 |
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| Childhood solid tumours v1.26 | ALK |
Ivone Leong Source NHS GMS was added to ALK. Mode of inheritance for gene ALK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial neuroblastoma for gene: ALK Publications for gene ALK were changed from to 18724359 |
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| Mitochondrial disorders v1.421 | MTPAP | Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.421 | MTPAP | Ellen McDonagh Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.12 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Classified gene: TRPV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | EPHA4 | Andrew Wilkie reviewed gene: EPHA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | SOX9 | Andrew Wilkie reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | SMAD6 | Andrew Wilkie reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | STKLD1 | Andrew Wilkie reviewed gene: STKLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | POLR1A | Andrew Wilkie reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | GZF1 | Andrew Wilkie reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | SUFU | Andrew Wilkie reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | TRAF7 | Andrew Wilkie reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | NCAPG2 | Andrew Wilkie reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | NXN | Andrew Wilkie reviewed gene: NXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | FZD2 | Andrew Wilkie reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | ASXL1 | Andrew Wilkie reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | PAX3 | Andrew Wilkie reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | EIF4A3 | Andrew Wilkie reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | CYP26B1 | Andrew Wilkie reviewed gene: CYP26B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | ZSWIM6 | Andrew Wilkie reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | EFNB1 | Andrew Wilkie reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.23 | EPHA4 |
Eleanor Williams gene: EPHA4 was added gene: EPHA4 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EPHA4 was set to Unknown Review for gene: EPHA4 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.22 | SMAD6 |
Eleanor Williams gene: SMAD6 was added gene: SMAD6 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: SMAD6 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.21 | STKLD1 |
Eleanor Williams gene: STKLD1 was added gene: STKLD1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: STKLD1 was set to Unknown Review for gene: STKLD1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.20 | POLR1A |
Eleanor Williams gene: POLR1A was added gene: POLR1A was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: POLR1A was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.19 | GZF1 |
Eleanor Williams gene: GZF1 was added gene: GZF1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.18 | SUFU |
Eleanor Williams gene: SUFU was added gene: SUFU was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: SUFU was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Ophthalmological ciliopathies v0.9 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.17 | TRAF7 |
Eleanor Williams gene: TRAF7 was added gene: TRAF7 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: TRAF7 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.16 | NCAPG2 |
Eleanor Williams gene: NCAPG2 was added gene: NCAPG2 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: NCAPG2 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.15 | NXN |
Eleanor Williams gene: NXN was added gene: NXN was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: NXN was set to Unknown Review for gene: NXN was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Inherited polyposis and early onset colorectal cancer - germline testing v0.49 | EPCAM | Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.16 | EPCAM | Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.325 | TRPV6 | Rebecca Foulger Classified gene: TRPV6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.325 | TRPV6 | Rebecca Foulger Gene: trpv6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.324 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188 Review for gene: TRPV6 was set to AMBER Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Sources: Literature |
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| Intellectual disability v2.993 | PIGB | Catherine Snow Classified gene: PIGB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.993 | PIGB | Catherine Snow Gene: pigb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.993 | PIGB | Catherine Snow Classified gene: PIGB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.993 | PIGB | Catherine Snow Gene: pigb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.194 | ARMC9 | Louise Daugherty Publications for gene: ARMC9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.193 | ARMC9 | Louise Daugherty Mode of inheritance for gene: ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.192 | ARMC9 | Louise Daugherty Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, 617622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.191 | MFN2 | Louise Daugherty Mode of inheritance for gene: MFN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.190 | ADGRG1 | Louise Daugherty Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.992 | PIGB | Catherine Snow reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.186 | PIGB | Catherine Snow commented on gene: PIGB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.186 | PIGB | Catherine Snow Classified gene: PIGB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.186 | PIGB | Catherine Snow Gene: pigb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.189 | XRCC1 | Louise Daugherty Tag watchlist tag was added to gene: XRCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.189 | OPA3 | Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; to: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green. Confirmed MOI should be AR (Biallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | MVK | Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | SLC9A6 | Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | DAB1 | Louise Daugherty edited their review of gene: DAB1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | BEAN1 | Louise Daugherty commented on gene: BEAN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | AARS | Louise Daugherty commented on gene: AARS: Upgraded rating from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | XRCC1 | Louise Daugherty commented on gene: XRCC1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | TGM6 | Louise Daugherty commented on gene: TGM6: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | SLC9A1 | Louise Daugherty commented on gene: SLC9A1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | POLG2 | Louise Daugherty commented on gene: POLG2: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | PDYN | Louise Daugherty commented on gene: PDYN: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | CACNB4 | Louise Daugherty commented on gene: CACNB4: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | ATXN8 | Louise Daugherty edited their review of gene: ATXN8: Added comment: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | RELN | Louise Daugherty commented on gene: RELN: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | ZFYVE26 | Louise Daugherty commented on gene: ZFYVE26: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | TPP1 | Louise Daugherty commented on gene: TPP1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | PRRT2 | Louise Daugherty commented on gene: PRRT2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | NHLRC1 | Louise Daugherty commented on gene: NHLRC1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | MRE11 | Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | MARS2 | Louise Daugherty commented on gene: MARS2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | FMR1 | Louise Daugherty commented on gene: FMR1: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | DNAJC5 | Louise Daugherty commented on gene: DNAJC5: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | ATP1A2 | Louise Daugherty commented on gene: ATP1A2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | TTC19 | Louise Daugherty commented on gene: TTC19: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | TINF2 | Louise Daugherty commented on gene: TINF2: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | SAR1B | Louise Daugherty commented on gene: SAR1B: Downgraded Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | OPA3 | Louise Daugherty commented on gene: OPA3: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | MORC2 | Louise Daugherty commented on gene: MORC2: Downgraded rating from Green to Amber, Green gene for childhood onset. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | MFN2 | Louise Daugherty commented on gene: MFN2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | GDAP2 | Louise Daugherty commented on gene: GDAP2: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | EPM2A | Louise Daugherty commented on gene: EPM2A: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | ELOVL5 | Louise Daugherty commented on gene: ELOVL5: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.188 | ARSA | Louise Daugherty commented on gene: ARSA: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.6 | MORC2 | Louise Daugherty Classified gene: MORC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.6 | MORC2 | Louise Daugherty Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.5 | MORC2 |
Louise Daugherty gene: MORC2 was added gene: MORC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to 28402445; 27794525 Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688 Review for gene: MORC2 was set to GREEN Added comment: Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green on the childhood panel during the call discussing MORC2 on R52 Hereditary ataxia - adult onset https://panelapp.genomicsengland.co.uk/panels/466/ (where is was decided to rate as Amber) Sources: Expert list |
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| Hereditary ataxia, adult onset v1.187 | MVK |
Louise Daugherty Source Expert Review Red was added to MVK. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | AARS |
Louise Daugherty Source Expert Review Amber was added to AARS. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary ataxia, adult onset v1.187 | TGM6 |
Louise Daugherty Source Expert Review Red was added to TGM6. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | SLC9A1 |
Louise Daugherty Source Expert Review Green was added to SLC9A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary ataxia, adult onset v1.187 | POLG2 |
Louise Daugherty Source Expert Review Red was added to POLG2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | PDYN |
Louise Daugherty Source Expert Review Red was added to PDYN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | CACNB4 |
Louise Daugherty Source Expert Review Red was added to CACNB4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | ATXN8 |
Louise Daugherty Source Expert Review Red was added to ATXN8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | FMR1 |
Louise Daugherty Source Expert Review Red was added to FMR1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | TTC19 |
Louise Daugherty Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | TINF2 |
Louise Daugherty Source Expert Review Red was added to TINF2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Hereditary ataxia, adult onset v1.187 | SAR1B |
Louise Daugherty Source Expert Review Amber was added to SAR1B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Hereditary ataxia, adult onset v1.187 | MORC2 |
Louise Daugherty Source Expert Review Amber was added to MORC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Hereditary ataxia, adult onset v1.187 | GDAP2 |
Louise Daugherty Source Expert Review Amber was added to GDAP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Hereditary ataxia, adult onset v1.187 | ELOVL5 |
Louise Daugherty Source Expert Review Amber was added to ELOVL5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Inherited polyposis and early onset colorectal cancer - germline testing v0.49 |
Ivone Leong Panel name changed from Inherited polyposis, R211 to Inherited polyposis List of related panels changed from to R211 |
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| GI tract tumours v1.16 | EPCAM | Ivone Leong Publications for gene: EPCAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.15 | EPCAM | Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.14 | EPCAM | Ivone Leong Classified gene: EPCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.14 | EPCAM | Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.14 | EPCAM | Ivone Leong Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.420 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.420 | TANGO2 | Sarah Leigh Added comment: Comment on list classification: TANGO2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878, which is not considered a primary mitochondrial disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.420 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.323 | COQ4 | Anna de Burca Classified gene: COQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.323 | COQ4 | Anna de Burca Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.322 | COQ4 | Anna de Burca Classified gene: COQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.322 | COQ4 | Anna de Burca Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.419 | STAT2 | Sarah Leigh Classified gene: STAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.419 | STAT2 | Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.419 | STAT2 | Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.75 | STAT2 | Sarah Leigh Classified gene: STAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.75 | STAT2 | Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.75 | STAT2 | Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.14 | FZD2 |
Eleanor Williams gene: FZD2 was added gene: FZD2 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: FZD2 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Likely inborn error of metabolism v1.74 | STAT2 | Sarah Leigh Phenotypes for gene: STAT2 were changed from elongated mitochondria; severe neurological deterioration following viral infection to Immunodeficiency 44 616636; elongated mitochondria; severe neurological deterioration following viral infection | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.13 | ASXL1 |
Eleanor Williams gene: ASXL1 was added gene: ASXL1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: ASXL1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Limb disorders v1.12 | PAX3 |
Eleanor Williams gene: PAX3 was added gene: PAX3 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PAX3 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Likely inborn error of metabolism v1.73 | ROBO3 | Sarah Leigh Classified gene: ROBO3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.73 | ROBO3 | Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.73 | ROBO3 | Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.418 | ROBO3 | Sarah Leigh Classified gene: ROBO3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.418 | ROBO3 | Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.418 | ROBO3 | Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.186 | CACNA1A_CAG | Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Added comment: Comment on list classification: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.186 | CSTB_CCCCGCCCCGCG | Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.185 | CSTB_CCCCGCCCCGCG | Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.184 | ISCA-37478-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37478-Loss was changed from to None. Source Hereditary ataxia v1.148 was removed from Region: ISCA-37478-Loss. Source NHS GMS was added to Region: ISCA-37478-Loss. |
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| Hereditary ataxia, adult onset v1.183 | ISCA-37478-Loss | Louise Daugherty commented on Region: ISCA-37478-Loss: CNV missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.417 | IER3IP1 | Sarah Leigh Classified gene: IER3IP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.417 | IER3IP1 | Sarah Leigh Added comment: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.417 | IER3IP1 | Sarah Leigh Gene: ier3ip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.183 | ISCA-37468-Loss | Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.183 | ISCA-37468-Loss | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this CNV Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.183 | ISCA-37468-Loss | Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.11 | EIF4A3 |
Eleanor Williams gene: EIF4A3 was added gene: EIF4A3 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF4A3 were set to 9284755; 9449664 Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305 Review for gene: EIF4A3 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Hereditary ataxia, adult onset v1.182 | TUBB2A | Louise Daugherty commented on gene: TUBB2A: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.182 | TUBB | Louise Daugherty commented on gene: TUBB: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.416 | HMGCL | Sarah Leigh Classified gene: HMGCL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.416 | HMGCL | Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.416 | HMGCL | Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.10 | CYP26B1 |
Eleanor Williams commented on gene: CYP26B1: Associated with Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies (614416) in OMIM. PMID: 22019272 - Laue et al 2011 - 2 cases, 1 with a relevant limb phenotype. Family 1 - three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. First proband presented as a fetal death, and subsequent second and third sibs were identified as affected by ultrasonography in two separate pregnancies. Homozygosity for p.Arg363Leu in CYP26B1 was found in all 3 sibs. The parents were heterozygous. Family 2 - individual with a likely diagnosis of Antley-Bixler syndrome born to consanguineous parents. Homozygosity for p.Ser146Pro was found. The phenotype of this female included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly. PMID: 27410456 - Morton et al 2016 - 1 case. A woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability. Reported limb phenotypes are camptodactyly of the fingers, long and narrow feet, short third and fourth metatarsals, and small third to fifth toenails. |
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| Mitochondrial disorders v1.415 | HMGCL | Sarah Leigh Classified gene: HMGCL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.415 | HMGCL | Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.415 | HMGCL | Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.182 | GALC | Louise Daugherty Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.181 | GALC | Louise Daugherty Classified gene: GALC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.181 | GALC | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.181 | GALC | Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.180 | PEX2 | Louise Daugherty Phenotypes for gene: PEX2 were changed from PEROXISOME BIOGENESIS DISORDER 5B,614867 to Peroxisome biogenesis disorder 5B, 614867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.179 | PEX2 | Louise Daugherty Classified gene: PEX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.179 | PEX2 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.179 | PEX2 | Louise Daugherty Gene: pex2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders v3.607 | Rebecca Foulger Changed child panels to: Intellectual disability; Skeletal dysplasia; DDG2P; Inborn errors of metabolism; Familial non syndromic congenital heart disease; Limb disorders; Paediatric disorders - additional genes; Skeletal ciliopathies; Ophthalmological ciliopathies; Neurological ciliopathies; Renal ciliopathies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.8 | EXT1 | Rebecca Foulger Classified gene: EXT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.8 | EXT1 | Rebecca Foulger Gene: ext1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.7 | EXT1 |
Rebecca Foulger Source NHS GMS was added to EXT1. Rating Changed from No List (delete) to Red List (low evidence) |
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| Sarcoma susceptibility v0.6 | EXT1 | Rebecca Foulger All sources for gene: EXT1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Classified STR: FXN_GAA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Added comment: Comment on list classification: FXN_GAA is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Str: fxn_gaa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.123 | FXN | Sarah Leigh Phenotypes for gene: FXN were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.122 | FXN | Sarah Leigh Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.122 | FXN |
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases. FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions. |
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| Undiagnosed metabolic disorders v1.122 | FXN | Sarah Leigh Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.121 | FXN | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.72 | FXN | Sarah Leigh Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.72 | FXN |
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases. FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions. |
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| Likely inborn error of metabolism v1.72 | FXN | Sarah Leigh Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.413 | FXN | Sarah Leigh Classified gene: FXN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.413 | FXN | Sarah Leigh Added comment: Comment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.413 | FXN | Sarah Leigh Gene: fxn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.185 | CUL4B | Rebecca Foulger changed review comment from: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).; to: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizures in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.185 | CUL4B | Rebecca Foulger changed review comment from: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures is reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).; to: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.992 | DLG4 | Catherine Snow Classified gene: DLG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.992 | DLG4 | Catherine Snow Gene: dlg4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.185 | HEXB | Rebecca Foulger Classified gene: HEXB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.185 | HEXB | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Sufficient cases of Sandhoff disease with seizures (PMID:28553389, PMID:7626071, PMID: 30075786) for inclusion on panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.185 | HEXB | Rebecca Foulger Gene: hexb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SMARCB1 | Rebecca Foulger Source NHS GMS was added to SMARCB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SMARCA4 | Rebecca Foulger Source NHS GMS was added to SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | PTEN | Rebecca Foulger Source NHS GMS was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | ERCC2 | Rebecca Foulger Source NHS GMS was added to ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | BRCA2 | Rebecca Foulger Source NHS GMS was added to BRCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | BLM | Rebecca Foulger Source NHS GMS was added to BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | ATR | Rebecca Foulger Source NHS GMS was added to ATR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | ATM | Rebecca Foulger Source NHS GMS was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | APC | Rebecca Foulger Source NHS GMS was added to APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | WT1 | Rebecca Foulger Source NHS GMS was added to WT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | TNFRSF11A | Rebecca Foulger Source NHS GMS was added to TNFRSF11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | PAX7 | Rebecca Foulger Source NHS GMS was added to PAX7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | PAX3 | Rebecca Foulger Source NHS GMS was added to PAX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | KRAS | Rebecca Foulger Source NHS GMS was added to KRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | FOXO1 | Rebecca Foulger Source NHS GMS was added to FOXO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | DICER1 | Rebecca Foulger Source NHS GMS was added to DICER1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | CREBBP | Rebecca Foulger Source NHS GMS was added to CREBBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | WRN | Rebecca Foulger Source NHS GMS was added to WRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SDHD | Rebecca Foulger Source NHS GMS was added to SDHD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SDHC | Rebecca Foulger Source NHS GMS was added to SDHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SDHB | Rebecca Foulger Source NHS GMS was added to SDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | SDHA | Rebecca Foulger Source NHS GMS was added to SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | RB1 | Rebecca Foulger Source NHS GMS was added to RB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | PMS2 | Rebecca Foulger Source NHS GMS was added to PMS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | NBN | Rebecca Foulger Source NHS GMS was added to NBN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | MSH6 | Rebecca Foulger Source NHS GMS was added to MSH6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | MSH2 | Rebecca Foulger Source NHS GMS was added to MSH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | MLH1 | Rebecca Foulger Source NHS GMS was added to MLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | KIT | Rebecca Foulger Source NHS GMS was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | HRAS | Rebecca Foulger Source NHS GMS was added to HRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | FH | Rebecca Foulger Source NHS GMS was added to FH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | CDKN1C | Rebecca Foulger Source NHS GMS was added to CDKN1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | BUB1B | Rebecca Foulger Source NHS GMS was added to BUB1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | CTBP1 | Rebecca Foulger Tag missense tag was added to gene: CTBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.121 | RANBP2 | Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.121 | RANBP2 | Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.121 | RANBP2 | Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sporadic aniridia v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | SETD1B | Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.79 | SETD1B |
Rebecca Foulger gene: SETD1B was added gene: SETD1B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD1B were set to 29322246 Phenotypes for gene: SETD1B were set to SETD1B associated intellectual disability, epilepsy and autism |
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| Possible mitochondrial disorder, nuclear genes v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.207 |
Ellen McDonagh List of related panels changed from to R63 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Mitochondrial disorder with complex V deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.27 |
Ellen McDonagh List of related panels changed from to R357 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Possible mitochondrial disorder, nuclear genes v0.206 | ATP5A1 | Ellen McDonagh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.206 | ATP5A1 | Ellen McDonagh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.206 | ATP5A1 | Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.206 | ATP5A1 | Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.26 | ATP5A1 | Ellen McDonagh commented on gene: ATP5A1: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.43 |
Ellen McDonagh List of related panels changed from to R356 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Limb disorders v1.10 | CYP26B1 |
Eleanor Williams gene: CYP26B1 was added gene: CYP26B1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to 22019272; 27410456 Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Mitochondrial disorder with complex III deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.27 |
Ellen McDonagh List of related panels changed from to R355 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Mitochondrial disorder with complex II deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex II deficiency v0.18 |
Ellen McDonagh List of related panels changed from to R354 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Mitochondrial disorder with complex I deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.68 |
Ellen McDonagh List of related panels changed from to R353 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Congenital fibrosis of the extraocular muscles v0.10 |
Ivone Leong List of related panels changed from to R46 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Stickler syndrome v1.33 |
Ivone Leong List of related panels changed from to R45 Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off |
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| Optic neuropathy v1.117 | Ivone Leong List of related panels changed from Inherited optic neuropathies to Inherited optic neuropathies; R41 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.9 | EFNB1 |
Eleanor Williams commented on gene: EFNB1: Associated with Craniofrontonasal dysplasia (304110) in OMIM and CRANIOFRONTONASAL SYNDROME in Gene2Phenotype (confirmed). In OMIM Asymmetric lower limb shortness, Joint laxity, Syndactyly, Brachydactyly, Fifth finger clinodactyly and Broad halluces are listed as limb features of the condition and a similar list is given in Gene2Phenotype. CFNS shows a very unusual pattern of X-linked inheritance, in which most affected patients are females and obligate male carriers show no or only mild manifestation, such as hypertelorism . PMID: 15166289 - Twigg et al 2014 - identified significant mutations in EFNB1 in all 20 unrelated Craniofrontonasal syndrome females studied, including nine different de novo mutations. Of the 20, 2 had duplex thumb/hallux and 1 showed lower-limb asymmetry in addition to other features such as coronal craniosynostosis and cleft lip and/or palate. PMID: 23335590 - Twigg et al 2013 - Six severely affected sporadic males with a diagnosis of CFNS. They identified mosaic mutations of EFNB1 in all cases, comprising three missense changes, two gene deletions and a novel point mutation within the 5′ untranslated region (UTR). 4/6 patients had brachydactyly and/or syndactyly. Clinodactyly was also seen in 3 patients. PMID: 15124102 - Weiland et al 2004 - 3 families with variants (deletion of exons 2–5 and two missense variants) in EFNB1 and CFNS. In Family 2 brachydactyly was an observed phenotype. In Family 3 one female showed complete syndactyly of the third and fourth finger on the left side. |
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| Albinism or congenital nystagmus v0.20 | Ivone Leong List of related panels changed from to R39 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sporadic aniridia v1.10 |
Ivone Leong List of related panels changed from to R38 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Mitochondrial DNA maintenance disorder v0.12 |
Ellen McDonagh List of related panels changed from to R352 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Structural eye disease v0.84 | Ivone Leong List of related panels changed from to R36 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.146 | Ivone Leong List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.28 | Ivone Leong List of related panels changed from to R31 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.7 | Ivone Leong List of related panels changed from to R262 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease v0.7 |
Ellen McDonagh List of related panels changed from to R317 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Bardet Biedl syndrome v0.23 | Ivone Leong List of related panels changed from to R107 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.8 | Ellen McDonagh List of related panels changed from to R316 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.7 | Ellen McDonagh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.9 | EFNB1 |
Eleanor Williams gene: EFNB1 was added gene: EFNB1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EFNB1 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: EFNB1 were set to 15166289; 23335590; 15124102 Phenotypes for gene: EFNB1 were set to Craniofrontonasal syndrome, 304110 Mode of pathogenicity for gene: EFNB1 was set to Other Review for gene: EFNB1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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| Hyperthyroidism v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v1.9 |
Ivone Leong List of related panels changed from Resistance to thyroid hormone to Resistance to thyroid hormone; R182 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off |
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| Differences in sex development v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.37 |
Ivone Leong List of related panels changed from to R146 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off |
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| Severe insulin resistance and lipodystrophy syndromes v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe insulin resistance and lipodystrophy syndromes v1.10 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.0 | RET | Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v1.0 | RET | Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 | RET | Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.7 | RET | Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Endocrine neoplasia v0.6 | RET | Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary pigmented nodular adrenocortical disease v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Classified gene: IFT81 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Added comment: Comment on list classification: Upgrading from Amber to Green as there is now an additional case in which the tandem duplication of 2 exons is predicted to result in a truncated protein (PMID: 30080953 - Pettersson et al 2018) in a patient with short-rib thoracic dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.12 | IFT81 | Eleanor Williams Gene: ift81 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.192 | IFT81 |
Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype and the variant classified as a VUS. 4th case with tandem duplication of 2 exons which is predicted to result in a truncated protein. |
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| Skeletal dysplasia v1.192 | IFT81 |
Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. |
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| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v1.3 | AP2S1 | Ivone Leong commented on gene: AP2S1: Submitted on behalf of Treen Cranston (Oxford): codon 15 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v1.3 | RET | Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v1.3 | RET | Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.11 | IFT81 | Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.192 | IFT81 |
Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband. PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. |
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| Skeletal dysplasia v1.192 | IFT81 | Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v1.52 | CACNA1D | Ivone Leong edited their review of gene: CACNA1D: Added comment: There is currently insufficient evidence for the promotion of this gene to a different gene status; therefore, it will remain red for now.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v1.46 | CISD2 | Ivone Leong edited their review of gene: CISD2: Added comment: Submitted on hehalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "This gene is a known cause of Wolfram-like syndrome. There has been no reported cases of mutations in this gene in patients diagnosed with neonatal diabetes. However it is included in our Exeter panel since we have reported cases of neonatal diabetes in the other Wolfram gene, WFS1."; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v1.46 | AGPAT2 | Ivone Leong edited their review of gene: AGPAT2: Added comment: Submitted on behalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "We have identified pathogenic variants in this gene in only two patients with neonatal diabetes from two different families. Therefore there is currently insufficient evidence for this being a neonatal diabetes gene (only 2 unrelated cases) and so this should not currently be changed to green using panelapp guidelines."; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | SDHD | Ivone Leong commented on gene: SDHD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | SDHC | Ivone Leong commented on gene: SDHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | SDHB | Ivone Leong commented on gene: SDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | SDHA | Ivone Leong commented on gene: SDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | PDGFRA | Ivone Leong commented on gene: PDGFRA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | KIT | Ivone Leong commented on gene: KIT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | Ivone Leong List of related panels changed from to R363 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.192 | B9D1 |
Eleanor Williams changed review comment from: Associated with ?Meckel syndrome 9 (#614209) and Joubert syndrome 27 (#617120) in OMIM. Gene2Phenotype reports a probable association with MECKEL SYNDROME 9. PMID: 24886560 - Romani et al 2014 - report mutations in B9D1 in two patients, a 9-year-old boy (COR363) and a 7-year-old girl (COR346), both presenting with pure JS. The mutations (cG467A; p.R156Q homo, and cA95G; p.Y32C, c.520-522delGTG; p.V175del) were inherited from heterozygous healthy parents, were not reported in public databases, and affected highly conserved residues. Missense mutations were predicted as pathogenic by prediction web tools. Neither patient showed polydactyly or orofacial features although patient COR363's facial dysmorphisms included a triangular face, retrognatism, accentuated philtrum and big ears, and patient COR346's dysmorphic facial features included frontal bossing, macrostomia, thick lips and low-set ears. PMID: 21493627 - Hopp et al 2011 - In family M456 with Meckel syndrome (MKS), a splice-donor site change in B9D1 was detected in a fetus (c.505+2T>C). Sanger sequencing revealed likely hemizygosity of this variant, with a de novo deletion of the B9D1 locus in the fetus. The deletion spans 1.713 Mb at chromosome 17p11.2, including the complete B9D1 locus. Additionally, 18 other genes were deleted. The authors also identified a novel change in a second MKS gene, CEP290. Sanger sequencing showed that the heterozygous variant, p.R2210C, was inherited from the mother. Polydactyly, that is typical in MKS, was not noted but the fetus had bilateral club feet and shortened limbs.; to: Associated with ?Meckel syndrome 9 (#614209) and Joubert syndrome 27 (#617120) in OMIM. Gene2Phenotype reports a probable association with MECKEL SYNDROME 9. PMID: 24886560 - Romani et al 2014 - report mutations in B9D1 in two unrelated patients, a 9-year-old boy (COR363) and a 7-year-old girl (COR346), both presenting with pure JS. The mutations (cG467A; p.R156Q homo, and cA95G; p.Y32C, c.520-522delGTG; p.V175del) were inherited from heterozygous healthy parents, were not reported in public databases, and affected highly conserved residues. Missense mutations were predicted as pathogenic by prediction web tools. Neither patient showed polydactyly or orofacial features although patient COR363's facial dysmorphisms included a triangular face, retrognatism, accentuated philtrum and big ears, and patient COR346's dysmorphic facial features included frontal bossing, macrostomia, thick lips and low-set ears. PMID: 21493627 - Hopp et al 2011 - In family M456 with Meckel syndrome (MKS), a splice-donor site change in B9D1 was detected in a fetus (c.505+2T>C). Sanger sequencing revealed likely hemizygosity of this variant, with a de novo deletion of the B9D1 locus in the fetus. The deletion spans 1.713 Mb at chromosome 17p11.2, including the complete B9D1 locus. Additionally, 18 other genes were deleted. The authors also identified a novel change in a second MKS gene, CEP290. Sanger sequencing showed that the heterozygous variant, p.R2210C, was inherited from the mother. Polydactyly, that is typical in MKS, was not noted but the fetus had bilateral club feet and shortened limbs. |
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| Inherited renal cancer v0.38 | SDHD | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | SDHC | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | MITF | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | CDKN2B | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | TMEM127 | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | TERF2IP | Ivone Leong commented on gene: TERF2IP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | BRCA2 | Ivone Leong commented on gene: BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | ACD | Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | ACD | Ivone Leong commented on gene: ACD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | CDKN2A | Ivone Leong commented on gene: CDKN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | CDK4 | Ivone Leong commented on gene: CDK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | BAP1 | Ivone Leong commented on gene: BAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v0.23 | Ivone Leong List of related panels changed from to R254 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | MITF | Ivone Leong commented on gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | CDKN2B | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | CDKN2B | Ivone Leong commented on gene: CDKN2B: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | VHL | Ivone Leong commented on gene: VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | SDHB | Ivone Leong commented on gene: SDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | PTEN | Ivone Leong commented on gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | FLCN | Ivone Leong commented on gene: FLCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | MET | Ivone Leong commented on gene: MET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | FH | Ivone Leong commented on gene: FH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | BAP1 | Ivone Leong commented on gene: BAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | Ivone Leong List of related panels changed from to R224 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.192 | MMP9 |
Eleanor Williams changed review comment from: Associated with Metaphyseal anadysplasia 2 (613073) in OMIM PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family. PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F). PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9. Only 2 cases reported, 3rd had variant in MMP13 not MMP9. Mouse model - PMID: 9590175 - Vu et al. 1998 - report that homozygous mice with a null mutation in the MMP-9/gelatinase B gene exhibit an abnormal pattern of skeletal growth plate vascularization and ossification.; to: Associated with Metaphyseal anadysplasia 2 (613073) in OMIM PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family. PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F). PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9. Summary: only 2 cases reported, 3rd had variant in MMP13 not MMP9. Mouse model - PMID: 9590175 - Vu et al. 1998 - report that homozygous mice with a null mutation in the MMP-9/gelatinase B gene exhibit an abnormal pattern of skeletal growth plate vascularization and ossification. |
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| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | POLD1 | Ivone Leong commented on gene: POLD1: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MUTYH | Ivone Leong commented on gene: MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | EPCAM | Ivone Leong commented on gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | BMPR1A | Ivone Leong commented on gene: BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | APC | Ivone Leong commented on gene: APC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.48 | Ivone Leong Panel name changed from Inherited polyposis to Inherited polyposis, R211 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary haemorrhagic telangiectasia v1.50 | EPHB4 | Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | EPCAM | Ivone Leong commented on gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | Ivone Leong Panel name changed from Inherited MMR deficiency (Lynch syndrome) to Inherited MMR deficiency (Lynch syndrome), R210 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | CDH1 | Ivone Leong commented on gene: CDH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | STK11 | Ivone Leong commented on gene: STK11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | SMAD4 | Ivone Leong commented on gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | PTEN | Ivone Leong commented on gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | POLE | Ivone Leong commented on gene: POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | POLD1 | Ivone Leong commented on gene: POLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | NTHL1 | Ivone Leong commented on gene: NTHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | MUTYH | Ivone Leong commented on gene: MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | APC | Ivone Leong commented on gene: APC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | BMPR1A | Ivone Leong commented on gene: BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | RAD51D | Ivone Leong commented on gene: RAD51D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | RAD51C | Ivone Leong commented on gene: RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | MSH6 | Ivone Leong commented on gene: MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | MSH2 | Ivone Leong commented on gene: MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | BRIP1 | Ivone Leong commented on gene: BRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | BRCA2 | Ivone Leong commented on gene: BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | BRCA1 | Ivone Leong commented on gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GI tract tumours v1.13 | Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | Ivone Leong List of related panels changed from Familial ovarian cancer to Familial ovarian cancer; R207 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.61 | ABL1 | Eleanor Williams changed review comment from: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.; to: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. They advise that it does not need to be green on the EDS panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.61 | COL2A1 | Eleanor Williams Classified gene: COL2A1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.61 | COL2A1 | Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.61 | COL2A1 | Eleanor Williams Gene: col2a1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.11 | Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.6 | TCF4 | Ivone Leong Classified gene: TCF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.6 | TCF4 | Ivone Leong Gene: tcf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.5 | TCF4 |
Ivone Leong gene: TCF4 was added gene: TCF4 was added to Corneal dystrophies. Sources: Expert list STR tags were added to gene: TCF4. Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF4 were set to 29526280; 26401622 Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267 Review for gene: TCF4 was set to GREEN Added comment: TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS. Sources: Expert list |
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| Cerebral malformation v2.64 | Louise Daugherty Changed child panels to: Malformations of cortical development; Holoprosencephaly; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies; Neurological segmental overgrowth | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral malformation v2.63 | Louise Daugherty Changed child panels to: Malformations of cortical development; Hydrocephalus; Holoprosencephaly; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies; Neurological segmental overgrowth | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v0.5 | Louise Daugherty Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v0.2 | TBC1D7 |
Louise Daugherty gene: TBC1D7 was added gene: TBC1D7 was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D7 were set to MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 |
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| Neurological segmental overgrowth v0.2 | NRAS |
Louise Daugherty gene: NRAS was added gene: NRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: NRAS was set to Phenotypes for gene: NRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly |
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| Neurological segmental overgrowth v0.2 | MTOR |
Louise Daugherty gene: MTOR was added gene: MTOR was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: MTOR was set to Phenotypes for gene: MTOR were set to Segmental Overgrowth Syndrome; HME; Hemimegalencephaly |
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| Neurological segmental overgrowth v0.2 | KRAS |
Louise Daugherty gene: KRAS was added gene: KRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: KRAS was set to Phenotypes for gene: KRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly |
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| Neurological segmental overgrowth v0.2 | HRAS |
Louise Daugherty gene: HRAS was added gene: HRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: HRAS was set to Phenotypes for gene: HRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly |
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| Neurological segmental overgrowth v0.2 | AKT2 |
Louise Daugherty gene: AKT2 was added gene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 |
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| Neurological segmental overgrowth v0.2 | PTEN |
Louise Daugherty gene: PTEN was added gene: PTEN was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome |
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| Neurological segmental overgrowth v0.2 | PIK3R2 |
Louise Daugherty gene: PIK3R2 was added gene: PIK3R2 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R2 were set to MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes |
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| Neurological segmental overgrowth v0.2 | PIK3CA |
Louise Daugherty gene: PIK3CA was added gene: PIK3CA was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP |
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| Neurological segmental overgrowth v0.2 | CCND2 |
Louise Daugherty gene: CCND2 was added gene: CCND2 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 |
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| Neurological segmental overgrowth v0.2 | AKT3 |
Louise Daugherty gene: AKT3 was added gene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 |
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| Neurological segmental overgrowth v0.2 | AKT1 |
Louise Daugherty gene: AKT1 was added gene: AKT1 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT1 were set to Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome |
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| Neurological segmental overgrowth v0.0 |
Louise Daugherty Added Panel Neurological segmental overgrowth Set panel types to: GMS Rare Disease Virtual; Component Of Super Panel |
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| Severe microcephaly v1.67 | ISCA-37501-Loss | Louise Daugherty Source NHS GMS was added to Region: ISCA-37501-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.66 | ISCA-37425-Gain |
Louise Daugherty Haploinsufficiency Score for ISCA-37425-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37425-Gain. |
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| Severe microcephaly v1.65 | ISCA-37408-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37408-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37408-Loss. |
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| Severe microcephaly v1.64 | ISCA-37406-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37406-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37406-Loss. |
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| Severe microcephaly v1.63 | ISCA-37390-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37390-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37390-Loss. |
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| Severe microcephaly v1.62 | ISCA-37390-Loss | Louise Daugherty reviewed Region: ISCA-37390-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ISCA-37406-Loss | Louise Daugherty reviewed Region: ISCA-37406-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ISCA-37408-Loss | Louise Daugherty reviewed Region: ISCA-37408-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ISCA-37425-Gain | Louise Daugherty reviewed Region: ISCA-37425-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ISCA-37501-Loss | Louise Daugherty commented on Region: ISCA-37501-Loss: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | WDFY3 | Louise Daugherty reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TUBGCP3 | Louise Daugherty reviewed gene: TUBGCP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TRMT1 | Louise Daugherty reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SASS6 | Louise Daugherty reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PPP1R15B | Louise Daugherty reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PLAA | Louise Daugherty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PHC1 | Louise Daugherty reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NSMCE2 | Louise Daugherty reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NIN | Louise Daugherty reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCM | Louise Daugherty reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ERCC5 | Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | EOMES | Louise Daugherty reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DNA2 | Louise Daugherty reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CENPE | Louise Daugherty reviewed gene: CENPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CDK6 | Louise Daugherty reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CDC6 | Louise Daugherty reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ATRIP | Louise Daugherty reviewed gene: ATRIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ANKLE2 | Louise Daugherty reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | AGMO | Louise Daugherty reviewed gene: AGMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ZNF335 | Louise Daugherty reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | WDR4 | Louise Daugherty edited their review of gene: WDR4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TAF13 | Louise Daugherty reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RMI1 | Louise Daugherty reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RAD51C | Louise Daugherty reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | QARS | Louise Daugherty reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | MRE11 | Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CRIPT | Louise Daugherty reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | COASY | Louise Daugherty commented on gene: COASY: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ZEB2 | Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | XRCC4 | Louise Daugherty reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | WDR73 | Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | WDR62 | Louise Daugherty reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TUBGCP6 | Louise Daugherty reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TUBGCP4 | Louise Daugherty reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TRMT10A | Louise Daugherty reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TRAIP | Louise Daugherty reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | TOP3A | Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | STIL | Louise Daugherty reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | STAMBP | Louise Daugherty reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SMC3 | Louise Daugherty reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SMC1A | Louise Daugherty reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SLX4 | Louise Daugherty reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SLC9A6 | Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | SLC25A19 | Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RTTN | Louise Daugherty reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RPL10 | Louise Daugherty reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RNU4ATAC | Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RBBP8 | Louise Daugherty reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | RAD21 | Louise Daugherty reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PQBP1 | Louise Daugherty reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | POC1A | Louise Daugherty reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PNKP | Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PLK4 | Louise Daugherty reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PDHA1 | Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PCNT | Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PALB2 | Louise Daugherty reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ORC6 | Louise Daugherty reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ORC4 | Louise Daugherty reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ORC1 | Louise Daugherty reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NIPBL | Louise Daugherty reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NHEJ1 | Louise Daugherty reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NDE1 | Louise Daugherty reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | NBN | Louise Daugherty reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | MYCN | Louise Daugherty reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | MSMO1 | Louise Daugherty reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | MFSD2A | Louise Daugherty reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | MCPH1 | Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | LIG4 | Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | LARP7 | Louise Daugherty reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | KIF11 | Louise Daugherty reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | IGF1R | Louise Daugherty reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | IGF1 | Louise Daugherty reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | IER3IP1 | Louise Daugherty reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | IARS | Louise Daugherty edited their review of gene: IARS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | HDAC8 | Louise Daugherty reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | GMNN | Louise Daugherty reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCL | Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCI | Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCG | Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCF | Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCE | Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCD2 | Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCC | Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCB | Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | FANCA | Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ERCC8 | Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ERCC6 | Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ERCC4 | Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | EFTUD2 | Louise Daugherty reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DYRK1A | Louise Daugherty reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DPP6 | Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DONSON | Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DIAPH1 | Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DHCR7 | Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | DDX11 | Louise Daugherty reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CTNNB1 | Louise Daugherty reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CREBBP | Louise Daugherty reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CKAP2L | Louise Daugherty reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CIT | Louise Daugherty reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CEP63 | Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CEP152 | Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CEP135 | Louise Daugherty reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CENPJ | Louise Daugherty reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CENPF | Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CDT1 | Louise Daugherty reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CDK5RAP2 | Louise Daugherty reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | CASK | Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | BRIP1 | Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | BRCA2 | Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | BLM | Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ATRX | Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ATR | Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | ASPM | Louise Daugherty reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | PRUNE1 | Louise Daugherty reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | KNL1 | Louise Daugherty reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.62 | KIF1BP | Louise Daugherty reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | UFC1 | Louise Daugherty Source NHS GMS was added to UFC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ZNHIT3 | Louise Daugherty Source NHS GMS was added to ZNHIT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PCLO | Louise Daugherty Source NHS GMS was added to PCLO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | UFM1 | Louise Daugherty Source NHS GMS was added to UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | UBA5 | Louise Daugherty Source NHS GMS was added to UBA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CCDC88A | Louise Daugherty Source NHS GMS was added to CCDC88A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | WDFY3 | Louise Daugherty Source NHS GMS was added to WDFY3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TUBGCP3 | Louise Daugherty Source NHS GMS was added to TUBGCP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TRMT1 | Louise Daugherty Source NHS GMS was added to TRMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SASS6 | Louise Daugherty Source NHS GMS was added to SASS6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PPP1R15B | Louise Daugherty Source NHS GMS was added to PPP1R15B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PLAA | Louise Daugherty Source NHS GMS was added to PLAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PHC1 | Louise Daugherty Source NHS GMS was added to PHC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NSMCE2 | Louise Daugherty Source NHS GMS was added to NSMCE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NIN | Louise Daugherty Source NHS GMS was added to NIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCM | Louise Daugherty Source NHS GMS was added to FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ERCC5 | Louise Daugherty Source NHS GMS was added to ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | EOMES | Louise Daugherty Source NHS GMS was added to EOMES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DNA2 | Louise Daugherty Source NHS GMS was added to DNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CENPE | Louise Daugherty Source NHS GMS was added to CENPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CDK6 | Louise Daugherty Source NHS GMS was added to CDK6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CDC6 | Louise Daugherty Source NHS GMS was added to CDC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ATRIP | Louise Daugherty Source NHS GMS was added to ATRIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ANKLE2 | Louise Daugherty Source NHS GMS was added to ANKLE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | AGMO | Louise Daugherty Source NHS GMS was added to AGMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ZNF335 | Louise Daugherty Source NHS GMS was added to ZNF335. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | WDR4 | Louise Daugherty Source NHS GMS was added to WDR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TAF13 | Louise Daugherty Source NHS GMS was added to TAF13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RMI1 | Louise Daugherty Source NHS GMS was added to RMI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RAD51C | Louise Daugherty Source NHS GMS was added to RAD51C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | QARS | Louise Daugherty Source NHS GMS was added to QARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | MRE11 | Louise Daugherty Source NHS GMS was added to MRE11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CRIPT | Louise Daugherty Source NHS GMS was added to CRIPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | COASY | Louise Daugherty Source NHS GMS was added to COASY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ZEB2 | Louise Daugherty Source NHS GMS was added to ZEB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | XRCC4 | Louise Daugherty Source NHS GMS was added to XRCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | WDR73 | Louise Daugherty Source NHS GMS was added to WDR73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | WDR62 | Louise Daugherty Source NHS GMS was added to WDR62. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TUBGCP6 | Louise Daugherty Source NHS GMS was added to TUBGCP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TUBGCP4 | Louise Daugherty Source NHS GMS was added to TUBGCP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TRMT10A | Louise Daugherty Source NHS GMS was added to TRMT10A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TRAIP | Louise Daugherty Source NHS GMS was added to TRAIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | TOP3A | Louise Daugherty Source NHS GMS was added to TOP3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | STIL | Louise Daugherty Source NHS GMS was added to STIL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | STAMBP | Louise Daugherty Source NHS GMS was added to STAMBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SMC3 | Louise Daugherty Source NHS GMS was added to SMC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SMC1A | Louise Daugherty Source NHS GMS was added to SMC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SLX4 | Louise Daugherty Source NHS GMS was added to SLX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SLC9A6 | Louise Daugherty Source NHS GMS was added to SLC9A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SLC25A19 | Louise Daugherty Source NHS GMS was added to SLC25A19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RTTN | Louise Daugherty Source NHS GMS was added to RTTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RPL10 | Louise Daugherty Source NHS GMS was added to RPL10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RNU4ATAC | Louise Daugherty Source NHS GMS was added to RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RBBP8 | Louise Daugherty Source NHS GMS was added to RBBP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | RAD21 | Louise Daugherty Source NHS GMS was added to RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PQBP1 | Louise Daugherty Source NHS GMS was added to PQBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | POC1A | Louise Daugherty Source NHS GMS was added to POC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PNKP | Louise Daugherty Source NHS GMS was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PLK4 | Louise Daugherty Source NHS GMS was added to PLK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PDHA1 | Louise Daugherty Source NHS GMS was added to PDHA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PCNT | Louise Daugherty Source NHS GMS was added to PCNT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PALB2 | Louise Daugherty Source NHS GMS was added to PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ORC6 | Louise Daugherty Source NHS GMS was added to ORC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ORC4 | Louise Daugherty Source NHS GMS was added to ORC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ORC1 | Louise Daugherty Source NHS GMS was added to ORC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NIPBL | Louise Daugherty Source NHS GMS was added to NIPBL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NHEJ1 | Louise Daugherty Source NHS GMS was added to NHEJ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NDE1 | Louise Daugherty Source NHS GMS was added to NDE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | NBN | Louise Daugherty Source NHS GMS was added to NBN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | MYCN | Louise Daugherty Source NHS GMS was added to MYCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | MSMO1 | Louise Daugherty Source NHS GMS was added to MSMO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | MFSD2A | Louise Daugherty Source NHS GMS was added to MFSD2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | MCPH1 | Louise Daugherty Source NHS GMS was added to MCPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | LIG4 | Louise Daugherty Source NHS GMS was added to LIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | LARP7 | Louise Daugherty Source NHS GMS was added to LARP7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | KIF11 | Louise Daugherty Source NHS GMS was added to KIF11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | IGF1R | Louise Daugherty Source NHS GMS was added to IGF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | IGF1 | Louise Daugherty Source NHS GMS was added to IGF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | IER3IP1 | Louise Daugherty Source NHS GMS was added to IER3IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | IARS | Louise Daugherty Source NHS GMS was added to IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | HDAC8 | Louise Daugherty Source NHS GMS was added to HDAC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | GMNN | Louise Daugherty Source NHS GMS was added to GMNN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCL | Louise Daugherty Source NHS GMS was added to FANCL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCI | Louise Daugherty Source NHS GMS was added to FANCI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCG | Louise Daugherty Source NHS GMS was added to FANCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCF | Louise Daugherty Source NHS GMS was added to FANCF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCE | Louise Daugherty Source NHS GMS was added to FANCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCD2 | Louise Daugherty Source NHS GMS was added to FANCD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCC | Louise Daugherty Source NHS GMS was added to FANCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCB | Louise Daugherty Source NHS GMS was added to FANCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | FANCA | Louise Daugherty Source NHS GMS was added to FANCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ERCC8 | Louise Daugherty Source NHS GMS was added to ERCC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ERCC6 | Louise Daugherty Source NHS GMS was added to ERCC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ERCC4 | Louise Daugherty Source NHS GMS was added to ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | EFTUD2 | Louise Daugherty Source NHS GMS was added to EFTUD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DYRK1A | Louise Daugherty Source NHS GMS was added to DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DPP6 | Louise Daugherty Source NHS GMS was added to DPP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DONSON | Louise Daugherty Source NHS GMS was added to DONSON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DIAPH1 | Louise Daugherty Source NHS GMS was added to DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DHCR7 | Louise Daugherty Source NHS GMS was added to DHCR7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | DDX11 | Louise Daugherty Source NHS GMS was added to DDX11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CTNNB1 | Louise Daugherty Source NHS GMS was added to CTNNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CREBBP | Louise Daugherty Source NHS GMS was added to CREBBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CKAP2L | Louise Daugherty Source NHS GMS was added to CKAP2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CIT | Louise Daugherty Source NHS GMS was added to CIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CEP63 | Louise Daugherty Source NHS GMS was added to CEP63. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CEP152 | Louise Daugherty Source NHS GMS was added to CEP152. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CEP135 | Louise Daugherty Source NHS GMS was added to CEP135. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CENPJ | Louise Daugherty Source NHS GMS was added to CENPJ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CENPF | Louise Daugherty Source NHS GMS was added to CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CDT1 | Louise Daugherty Source NHS GMS was added to CDT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CDK5RAP2 | Louise Daugherty Source NHS GMS was added to CDK5RAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | CASK | Louise Daugherty Source NHS GMS was added to CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | BRIP1 | Louise Daugherty Source NHS GMS was added to BRIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | BRCA2 | Louise Daugherty Source NHS GMS was added to BRCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | BLM | Louise Daugherty Source NHS GMS was added to BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ATRX | Louise Daugherty Source NHS GMS was added to ATRX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ATR | Louise Daugherty Source NHS GMS was added to ATR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | ASPM | Louise Daugherty Source NHS GMS was added to ASPM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | PRUNE1 | Louise Daugherty Source NHS GMS was added to PRUNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | KNL1 | Louise Daugherty Source NHS GMS was added to KNL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | KIF1BP | Louise Daugherty Source NHS GMS was added to KIF1BP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.60 | UFC1 |
Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.60 | UFC1 | Louise Daugherty edited their review of gene: UFC1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.60 | UFC1 |
Louise Daugherty gene: UFC1 was added gene: UFC1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly Review for gene: UFC1 was set to AMBER Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.59 | ZNHIT3 |
Louise Daugherty gene: ZNHIT3 was added gene: ZNHIT3 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565; microcephaly Review for gene: ZNHIT3 was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.58 | UBA5 |
Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list |
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| Severe microcephaly v1.58 | PCLO |
Louise Daugherty gene: PCLO was added gene: PCLO was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, 608027 Review for gene: PCLO was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Classified gene: UFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and PMIDs as recommended during the call and in light of evidence as evidence to gene can be upgraded to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Gene: ufm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.56 | UFM1 | Louise Daugherty Added comment: Comment on publications: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019 : added PMIDs as recommended to support rating of gene to be Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.56 | UFM1 | Louise Daugherty Publications for gene: UFM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.55 | CCDC88A | Louise Daugherty Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.54 | UFM1 | Louise Daugherty Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.53 | UFM1 |
Louise Daugherty gene: UFM1 was added gene: UFM1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 Review for gene: UFM1 was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list |
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| Severe microcephaly v1.52 | UBA5 |
Louise Daugherty gene: UBA5 was added gene: UBA5 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 Review for gene: UBA5 was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list |
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| Severe microcephaly v1.51 | CCDC88A |
Louise Daugherty gene: CCDC88A was added gene: CCDC88A was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88A were set to PEHO syndrome-like, 617507 Review for gene: CCDC88A was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list |
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| Hydrocephalus v1.34 | WDR81 | Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TTR | Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TMEM216 | Louise Daugherty reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TBX15 | Louise Daugherty reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | RNASEH2A | Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | OFD1 | Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | NRAS | Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | NOTCH2 | Louise Daugherty reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | NANS | Louise Daugherty reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | MMACHC | Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | GMPPB | Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ASXL2 | Louise Daugherty reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | WNT3 | Louise Daugherty reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TBC1D7 | Louise Daugherty reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | SEC24D | Louise Daugherty reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PTCH2 | Louise Daugherty reviewed gene: PTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | P4HB | Louise Daugherty reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | MTM1 | Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | MPDZ | Louise Daugherty reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | KIF7 | Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ICK | Louise Daugherty reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | HDAC6 | Louise Daugherty reviewed gene: HDAC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FLNA | Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | EBP | Louise Daugherty reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CLIC2 | Louise Daugherty reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | B3GNT2 | Louise Daugherty reviewed gene: B3GNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ARX | Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ZIC3 | Louise Daugherty reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ZIC2 | Louise Daugherty reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ZBTB20 | Louise Daugherty reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | USP9X | Louise Daugherty reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TWIST1 | Louise Daugherty reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TMEM5 | Louise Daugherty edited their review of gene: TMEM5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | TCF12 | Louise Daugherty reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | SUMF1 | Louise Daugherty reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | SUFU | Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | STRADA | Louise Daugherty edited their review of gene: STRADA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | SNX10 | Louise Daugherty reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | SKI | Louise Daugherty reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | RPS6KA3 | Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | RNF125 | Louise Daugherty reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PTEN | Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PTCH1 | Louise Daugherty reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PPP2R5D | Louise Daugherty reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | POMT2 | Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | POMT1 | Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | POMK | Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | POMGNT2 | Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | POMGNT1 | Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PLG | Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PIK3R2 | Louise Daugherty reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | PIK3CA | Louise Daugherty reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | OSTM1 | Louise Daugherty reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | NSD1 | Louise Daugherty reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | NF1 | Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | MAN2B1 | Louise Daugherty reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | LAMB1 | Louise Daugherty reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | L1CAM | Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | KIAA1109 | Louise Daugherty reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | KIAA0586 | Louise Daugherty reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ISPD | Louise Daugherty edited their review of gene: ISPD: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | IDS | Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | HYLS1 | Louise Daugherty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | GUSB | Louise Daugherty reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | GPSM2 | Louise Daugherty reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | GLI3 | Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | GFAP | Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FMR1 | Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FLVCR2 | Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FKTN | Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FKRP | Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FGFR3 | Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FGFR2 | Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FGFR1 | Louise Daugherty reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FANCB | Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | FAM20C | Louise Daugherty reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ERF | Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | EML1 | Louise Daugherty edited their review of gene: EML1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | DHCR24 | Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | DENND5A | Louise Daugherty reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | DAG1 | Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CRB2 | Louise Daugherty reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | COL4A1 | Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CEP83 | Louise Daugherty reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CENPF | Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CCND2 | Louise Daugherty reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CCDC88C | Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | CC2D2A | Louise Daugherty reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | BUB1B | Louise Daugherty reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | B3GALNT2 | Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | ARSB | Louise Daugherty reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | AP1S2 | Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | AKT3 | Louise Daugherty reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | WASHC5 | Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | MYMK | Louise Daugherty reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | LARGE1 | Louise Daugherty edited their review of gene: LARGE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.34 | B3GLCT | Louise Daugherty reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | EML1 | Louise Daugherty Tag watchlist was removed from gene: EML1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | EML1 | Louise Daugherty commented on gene: EML1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | WDR81 | Louise Daugherty Source NHS GMS was added to WDR81. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TTR | Louise Daugherty Source NHS GMS was added to TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TMEM216 | Louise Daugherty Source NHS GMS was added to TMEM216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TBX15 | Louise Daugherty Source NHS GMS was added to TBX15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | RNASEH2A | Louise Daugherty Source NHS GMS was added to RNASEH2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | OFD1 | Louise Daugherty Source NHS GMS was added to OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | NRAS | Louise Daugherty Source NHS GMS was added to NRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | NOTCH2 | Louise Daugherty Source NHS GMS was added to NOTCH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | NANS | Louise Daugherty Source NHS GMS was added to NANS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | MMACHC | Louise Daugherty Source NHS GMS was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | GMPPB | Louise Daugherty Source NHS GMS was added to GMPPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ASXL2 | Louise Daugherty Source NHS GMS was added to ASXL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | WNT3 | Louise Daugherty Source NHS GMS was added to WNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TBC1D7 | Louise Daugherty Source NHS GMS was added to TBC1D7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | SEC24D | Louise Daugherty Source NHS GMS was added to SEC24D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PTCH2 | Louise Daugherty Source NHS GMS was added to PTCH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | P4HB | Louise Daugherty Source NHS GMS was added to P4HB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | MTM1 | Louise Daugherty Source NHS GMS was added to MTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | MPDZ | Louise Daugherty Source NHS GMS was added to MPDZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | KIF7 | Louise Daugherty Source NHS GMS was added to KIF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ICK | Louise Daugherty Source NHS GMS was added to ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | HDAC6 | Louise Daugherty Source NHS GMS was added to HDAC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FLNA | Louise Daugherty Source NHS GMS was added to FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | EBP | Louise Daugherty Source NHS GMS was added to EBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CLIC2 | Louise Daugherty Source NHS GMS was added to CLIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | B3GNT2 | Louise Daugherty Source NHS GMS was added to B3GNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ARX | Louise Daugherty Source NHS GMS was added to ARX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ZIC3 | Louise Daugherty Source NHS GMS was added to ZIC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ZIC2 | Louise Daugherty Source NHS GMS was added to ZIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ZBTB20 | Louise Daugherty Source NHS GMS was added to ZBTB20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | USP9X | Louise Daugherty Source NHS GMS was added to USP9X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TWIST1 | Louise Daugherty Source NHS GMS was added to TWIST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TMEM5 | Louise Daugherty Source NHS GMS was added to TMEM5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | TCF12 | Louise Daugherty Source NHS GMS was added to TCF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | SUMF1 | Louise Daugherty Source NHS GMS was added to SUMF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | SUFU | Louise Daugherty Source NHS GMS was added to SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | STRADA | Louise Daugherty Source NHS GMS was added to STRADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | SNX10 | Louise Daugherty Source NHS GMS was added to SNX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | SKI | Louise Daugherty Source NHS GMS was added to SKI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | RPS6KA3 | Louise Daugherty Source NHS GMS was added to RPS6KA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | RNF125 | Louise Daugherty Source NHS GMS was added to RNF125. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PTEN | Louise Daugherty Source NHS GMS was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PTCH1 | Louise Daugherty Source NHS GMS was added to PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PPP2R5D | Louise Daugherty Source NHS GMS was added to PPP2R5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | POMT2 | Louise Daugherty Source NHS GMS was added to POMT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | POMT1 | Louise Daugherty Source NHS GMS was added to POMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | POMK | Louise Daugherty Source NHS GMS was added to POMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | POMGNT2 | Louise Daugherty Source NHS GMS was added to POMGNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | POMGNT1 | Louise Daugherty Source NHS GMS was added to POMGNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PLG | Louise Daugherty Source NHS GMS was added to PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PIK3R2 | Louise Daugherty Source NHS GMS was added to PIK3R2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | PIK3CA | Louise Daugherty Source NHS GMS was added to PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | OSTM1 | Louise Daugherty Source NHS GMS was added to OSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | NSD1 | Louise Daugherty Source NHS GMS was added to NSD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | NF1 | Louise Daugherty Source NHS GMS was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | MAN2B1 | Louise Daugherty Source NHS GMS was added to MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | LAMB1 | Louise Daugherty Source NHS GMS was added to LAMB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | L1CAM | Louise Daugherty Source NHS GMS was added to L1CAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | KIAA1109 | Louise Daugherty Source NHS GMS was added to KIAA1109. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | KIAA0586 | Louise Daugherty Source NHS GMS was added to KIAA0586. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ISPD | Louise Daugherty Source NHS GMS was added to ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | IDS | Louise Daugherty Source NHS GMS was added to IDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | HYLS1 | Louise Daugherty Source NHS GMS was added to HYLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | GUSB | Louise Daugherty Source NHS GMS was added to GUSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | GPSM2 | Louise Daugherty Source NHS GMS was added to GPSM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | GLI3 | Louise Daugherty Source NHS GMS was added to GLI3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | GFAP | Louise Daugherty Source NHS GMS was added to GFAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FMR1 | Louise Daugherty Source NHS GMS was added to FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FLVCR2 | Louise Daugherty Source NHS GMS was added to FLVCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FKTN | Louise Daugherty Source NHS GMS was added to FKTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FKRP | Louise Daugherty Source NHS GMS was added to FKRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FGFR3 | Louise Daugherty Source NHS GMS was added to FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FGFR2 | Louise Daugherty Source NHS GMS was added to FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FGFR1 | Louise Daugherty Source NHS GMS was added to FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FANCB | Louise Daugherty Source NHS GMS was added to FANCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | FAM20C | Louise Daugherty Source NHS GMS was added to FAM20C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ERF | Louise Daugherty Source NHS GMS was added to ERF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | EML1 | Louise Daugherty Source NHS GMS was added to EML1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | DHCR24 | Louise Daugherty Source NHS GMS was added to DHCR24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | DENND5A | Louise Daugherty Source NHS GMS was added to DENND5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | DAG1 | Louise Daugherty Source NHS GMS was added to DAG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CRB2 | Louise Daugherty Source NHS GMS was added to CRB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | COL4A1 | Louise Daugherty Source NHS GMS was added to COL4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CEP83 | Louise Daugherty Source NHS GMS was added to CEP83. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CENPF | Louise Daugherty Source NHS GMS was added to CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CCND2 | Louise Daugherty Source NHS GMS was added to CCND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CCDC88C | Louise Daugherty Source NHS GMS was added to CCDC88C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | CC2D2A | Louise Daugherty Source NHS GMS was added to CC2D2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | BUB1B | Louise Daugherty Source NHS GMS was added to BUB1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | B3GALNT2 | Louise Daugherty Source NHS GMS was added to B3GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | ARSB | Louise Daugherty Source NHS GMS was added to ARSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | AP1S2 | Louise Daugherty Source NHS GMS was added to AP1S2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | AKT3 | Louise Daugherty Source NHS GMS was added to AKT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | WASHC5 | Louise Daugherty Source NHS GMS was added to WASHC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | MYMK | Louise Daugherty Source NHS GMS was added to MYMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | LARGE1 | Louise Daugherty Source NHS GMS was added to LARGE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v1.33 | B3GLCT | Louise Daugherty Source NHS GMS was added to B3GLCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | AP2M1 | Catherine Snow Tag missense tag was added to gene: AP2M1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.184 | AP2M1 | Catherine Snow Tag missense tag was added to gene: AP2M1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | CYP27A1 | Catherine Snow Tag watchlist tag was added to gene: CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | CYP27A1 |
Catherine Snow commented on gene: CYP27A1: Advice from clinical team "the phenotypic relevance is borderline. I would opt for amber in view of the small number of cases of school age, or earlier, intellectual impairment. This phenotype is the mainstay of this panel, but not clearly the common presentation for this disorder. Therefore I would prefer to opt to await further cases with a relevant phenotype before reviewing this". CYP27A1 will therefore remain Amber on the panel and the watchlist tag been added. |
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| Holoprosencephaly v1.21 | DHCR7 | Louise Daugherty Source NHS GMS was added to DHCR7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | SMAD2 | Louise Daugherty Source NHS GMS was added to SMAD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | NODAL | Louise Daugherty Source NHS GMS was added to NODAL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | GCM2 | Louise Daugherty Source NHS GMS was added to GCM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | FOXH1 | Louise Daugherty Source NHS GMS was added to FOXH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | SUFU | Louise Daugherty Source NHS GMS was added to SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | DLL1 | Louise Daugherty Source NHS GMS was added to DLL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | CNOT1 | Louise Daugherty Source NHS GMS was added to CNOT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | ZIC2 | Louise Daugherty Source NHS GMS was added to ZIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | TGIF1 | Louise Daugherty Source NHS GMS was added to TGIF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | SIX3 | Louise Daugherty Source NHS GMS was added to SIX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | SHH | Louise Daugherty Source NHS GMS was added to SHH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | PTCH1 | Louise Daugherty Source NHS GMS was added to PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | GLI2 | Louise Daugherty Source NHS GMS was added to GLI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | FGFR1 | Louise Daugherty Source NHS GMS was added to FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | FGF8 | Louise Daugherty Source NHS GMS was added to FGF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | DISP1 | Louise Daugherty Source NHS GMS was added to DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | CDON | Louise Daugherty Source NHS GMS was added to CDON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | PHF21A | Catherine Snow Classified gene: PHF21A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.991 | PHF21A | Catherine Snow Gene: phf21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.990 | PHF21A |
Catherine Snow changed review comment from: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A. Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case. PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype. Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green.; to: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A. Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case. This is the first reporting of LOF variants solely in PHF21A. PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype. Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green. |
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| Intellectual disability v2.990 | PHF21A | Catherine Snow reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | SMAD2 | Louise Daugherty commented on gene: SMAD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | NODAL | Louise Daugherty commented on gene: NODAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | GCM2 | Louise Daugherty commented on gene: GCM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | FOXH1 | Louise Daugherty commented on gene: FOXH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | CNOT1 | Louise Daugherty commented on gene: CNOT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | ZIC2 | Louise Daugherty commented on gene: ZIC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | TGIF1 | Louise Daugherty commented on gene: TGIF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | SIX3 | Louise Daugherty commented on gene: SIX3: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | SIX3 | Louise Daugherty commented on gene: SIX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | SHH | Louise Daugherty commented on gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | PTCH1 | Louise Daugherty commented on gene: PTCH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | GLI2 | Louise Daugherty commented on gene: GLI2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | FGFR1 | Louise Daugherty commented on gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | FGF8 | Louise Daugherty commented on gene: FGF8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | DISP1 | Louise Daugherty commented on gene: DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | CDON | Louise Daugherty commented on gene: CDON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | DHCR7 | Louise Daugherty Classified gene: DHCR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | DHCR7 | Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | DHCR7 | Louise Daugherty Classified gene: DHCR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | DHCR7 | Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.19 | DHCR7 | Louise Daugherty Added comment: Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.19 | DHCR7 | Louise Daugherty Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.18 | DHCR7 |
Louise Daugherty gene: DHCR7 was added gene: DHCR7 was added to Holoprosencephaly. Sources: Expert list Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE) Review for gene: DHCR7 was set to AMBER Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp curation team added phenotype/MOI and publications to support Green review Sources: Expert list |
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| Intellectual disability v2.990 | GTF3C3 | Catherine Snow Classified gene: GTF3C3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.990 | GTF3C3 | Catherine Snow Gene: gtf3c3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.989 | GTF3C3 | Catherine Snow reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.17 | DLL1 | Louise Daugherty reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.17 | SUFU | Louise Daugherty Tag watchlist tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.17 | SUFU | Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.989 | PPP1R21 | Catherine Snow Phenotypes for gene: PPP1R21 were changed from Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system to Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.988 | PPP1R21 | Catherine Snow Phenotypes for gene: PPP1R21 were changed from Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system, Hepatosplenomegaly; Profound global developmental delay; Abnormal heart morphology; Generalized hypotonia; Feeding difficulties; Abnormality of the face; Abnormality of vision to Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.17 | SUFU | Louise Daugherty Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.16 | SUFU | Louise Daugherty Publications for gene: SUFU were set to 27363716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.15 | DLL1 | Louise Daugherty Publications for gene: DLL1 were set to 27363716; 21196490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.987 | GTF3C3 | Catherine Snow Tag watchlist tag was added to gene: GTF3C3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.987 | GTF3C3 | Catherine Snow Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.987 | GTF3C3 | Catherine Snow Publications for gene: GTF3C3 were set to 28940097, 28097321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.321 | SETD5 | Anna de Burca Classified gene: SETD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.321 | SETD5 | Anna de Burca Added comment: Comment on list classification: Promoted to Green based on July 19th review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.321 | SETD5 | Anna de Burca Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.986 | KMT2B | Catherine Snow Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525; 31216378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.19 | AHR | Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28851966, 31009037, 23301081; Phenotypes: Foveal hypoplasia without albinism, Infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.19 | AHR |
Ivone Leong gene: AHR was added gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHR were set to 28851966; 31009037; 23301081 Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus |
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| Intellectual disability v2.985 | MTO1 | Catherine Snow Publications for gene: MTO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.984 | PHF21A | Catherine Snow Publications for gene: PHF21A were set to 22770980; 26333423; 8456828; 8882796; 14872200; 9489802; 11017806; 11903336; 15852040; 23239541; 28127865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.983 | MTO1 | Catherine Snow Classified gene: MTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.983 | MTO1 | Catherine Snow Gene: mto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.982 | MTO1 | Catherine Snow reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.97 | GBA | Arianna Tucci reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.90 | ISCA-37468-Loss | Louise Daugherty changed review comment from: Region rating (red) submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.; to: Region rating (red) submitted by James Polke unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia, adult onset v1.178 | GALC |
Nick Beauchamp gene: GALC was added gene: GALC was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 26915362, 20886637 Phenotypes for gene: GALC were set to KRABBE DISEASE, 245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic Added comment: Unusual presentation but 5 member kindred presenting with predominant cerebellar ataxia (26915362) and two patients with spastic ataxia reported by Tappino et al 2010 (20886637). Further case report with patient developing progressive ataxia (doi: 10.5455/ijmsph.2014.150320141) Sources: Expert Review |
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| Hereditary ataxia, adult onset v1.178 | PEX2 |
Nick Beauchamp gene: PEX2 was added gene: PEX2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 23430938; 7931872; 21392394 Phenotypes for gene: PEX2 were set to PEROXISOME BIOGENESIS DISORDER 5B,614867 Review for gene: PEX2 was set to GREEN gene: PEX2 was marked as current diagnostic Added comment: Three patients with PEX2 mutations either compound het or homozygous. Mild symptoms that included no cognitive impairment but does show gait ataxia, dysarthria, dysmetria, areflexia, and bilateral pes cavus. Sources: Expert Review |
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| Intellectual disability v2.982 | KMT2B | Catherine Snow commented on gene: KMT2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.982 | KMT2B | Catherine Snow Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | ZBTB11 | Catherine Snow Tag watchlist tag was added to gene: ZBTB11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | VPS11 | Catherine Snow Tag watchlist tag was added to gene: VPS11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | TKT | Catherine Snow Tag watchlist tag was added to gene: TKT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.4 | CTBP1 |
Louise Daugherty changed review comment from: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel' Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far. Rebecca Foulger (Genomics England curator), 25 Jul 2019 There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported. Rebecca Foulger (Genomics England curator), 25 Jul 2019 27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression. Chris Buxton (North Bristol NHS Trust), 18 Jul 2019 12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green. Konstantinos Varvagiannis (Other), 7 Jul 2019 Sources: Literature; to: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel' Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far. Rebecca Foulger (Genomics England curator), 25 Jul 2019 There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported. Rebecca Foulger (Genomics England curator), 25 Jul 2019 27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression. Chris Buxton (North Bristol NHS Trust), 18 Jul 2019 12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green. Konstantinos Varvagiannis (Other), 7 Jul 2019 Sources: Literature |
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| Intellectual disability v2.981 | SUFU | Catherine Snow Tag watchlist tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | SRP54 | Catherine Snow Tag watchlist tag was added to gene: SRP54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | SMG9 | Catherine Snow Tag watchlist tag was added to gene: SMG9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.4 | CTBP1 | Louise Daugherty Classified gene: CTBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.4 | CTBP1 | Louise Daugherty Gene: ctbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | SLC5A7 | Catherine Snow Tag watchlist tag was added to gene: SLC5A7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v1.3 | CTBP1 |
Louise Daugherty gene: CTBP1 was added gene: CTBP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature missense tags were added to gene: CTBP1. Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Mode of pathogenicity for gene: CTBP1 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: CTBP1 was set to GREEN Added comment: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel' Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far. Rebecca Foulger (Genomics England curator), 25 Jul 2019 There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported. Rebecca Foulger (Genomics England curator), 25 Jul 2019 27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression. Chris Buxton (North Bristol NHS Trust), 18 Jul 2019 12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green. Konstantinos Varvagiannis (Other), 7 Jul 2019 Sources: Literature |
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| Intellectual disability v2.981 | SCYL1 | Catherine Snow Tag watchlist tag was added to gene: SCYL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | RSPRY1 | Catherine Snow Tag watchlist tag was added to gene: RSPRY1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | RNF13 | Catherine Snow Tag watchlist tag was added to gene: RNF13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | RAB11A | Catherine Snow Tag watchlist tag was added to gene: RAB11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | PTRHD1 | Catherine Snow Tag watchlist tag was added to gene: PTRHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | PTRH2 | Catherine Snow Tag watchlist tag was added to gene: PTRH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | PLEKHG2 | Catherine Snow Tag watchlist tag was added to gene: PLEKHG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | LSS | Catherine Snow Tag watchlist tag was added to gene: LSS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | LIPT2 | Catherine Snow Tag watchlist tag was added to gene: LIPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | GTF2E2 | Catherine Snow Tag watchlist tag was added to gene: GTF2E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | FUK | Catherine Snow Tag watchlist tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | EMG1 | Catherine Snow Tag watchlist tag was added to gene: EMG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | DYNC1I2 | Catherine Snow Tag watchlist tag was added to gene: DYNC1I2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | DONSON | Catherine Snow Tag watchlist tag was added to gene: DONSON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | GMNN | Catherine Snow Tag watchlist tag was added to gene: GMNN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | UFM1 | Catherine Snow Tag de novo tag was added to gene: UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral malformation v2.49 | Louise Daugherty Changed child panels to: Malformations of cortical development; Hydrocephalus; Holoprosencephaly; Segmental overgrowth disorders; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.184 | DHCR7 | Rebecca Foulger Publications for gene: DHCR7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.183 | DHCR7 | Rebecca Foulger Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, 270400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.182 | DHCR7 | Rebecca Foulger Classified gene: DHCR7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.182 | DHCR7 | Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following agreement from Helen Brittain (Genomics England clinical team). DHCR7 is currently Green based on its association with Smith-Lemli-Opitz syndrome (SLOS). Seizures are uncommon (1/23 in PMID:24920862 and 1/3 in PMID:29226552). A 2002 paper (PMID:10807690) also suggests seizures are no more common than in general population. Therefore further evidence is required for a clear link between DHCR7 and seizure phenotype. Note that DHCR7 has been promoted to Green on the metabolism panels so will be Green on the GMS epilepsy superpanel through the metabolic phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.182 | DHCR7 | Rebecca Foulger Gene: dhcr7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.181 | RANBP2 | Rebecca Foulger changed review comment from: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information is required for a clear gene:disease association.; to: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.181 | RANBP2 | Rebecca Foulger Classified gene: RANBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.181 | RANBP2 | Rebecca Foulger Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.181 | RANBP2 | Rebecca Foulger Gene: ranbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.980 | CTBP1 | Rebecca Foulger Classified gene: CTBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.980 | CTBP1 | Rebecca Foulger Added comment: Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.980 | CTBP1 | Rebecca Foulger Gene: ctbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | CTBP1 | Rebecca Foulger commented on gene: CTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | MAP3K7 | Catherine Snow Mode of inheritance for gene MAP3K7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | TKT | Catherine Snow Mode of inheritance for gene TKT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SUFU | Catherine Snow Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SRP54 | Catherine Snow Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SMG9 | Catherine Snow Mode of inheritance for gene SMG9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SLC5A7 | Catherine Snow Mode of inheritance for gene SLC5A7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SCYL1 | Catherine Snow Mode of inheritance for gene SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | RSPRY1 | Catherine Snow Mode of inheritance for gene RSPRY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | LIPT2 | Catherine Snow Mode of inheritance for gene LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | LIAS | Catherine Snow Mode of inheritance for gene LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | GTF2E2 | Catherine Snow Mode of inheritance for gene GTF2E2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | GMNN | Catherine Snow Mode of inheritance for gene GMNN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | EMG1 | Catherine Snow Mode of inheritance for gene EMG1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | TRAIP | Catherine Snow Mode of inheritance for gene TRAIP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | PRR12 | Catherine Snow Mode of inheritance for gene PRR12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | MRPS34 | Catherine Snow Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | EMC1 | Catherine Snow Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | MAP3K7 |
Catherine Snow gene: MAP3K7 was added gene: MAP3K7 was added to Intellectual disability. Sources: Literature,Expert Review Red Mode of inheritance for gene: MAP3K7 was set to Publications for gene: MAP3K7 were set to 27426733; 30914295 Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137 |
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| Intellectual disability v2.978 | ZBTB11 |
Catherine Snow Source Expert Review was added to ZBTB11. Source Expert Review Amber was added to ZBTB11. Added phenotypes Intellectual developmental disorder, autosomal recessive 69, 618383 for gene: ZBTB11 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | VPS11 |
Catherine Snow Source Expert Review was added to VPS11. Source Expert Review Amber was added to VPS11. Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 for gene: VPS11 Publications for gene VPS11 were changed from 27120463; 26307567; 27473128 to 27473128; 26307567; 27120463 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | UFC1 |
Catherine Snow Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 Publications for gene UFC1 were changed from 29868776; 27431290; 30237576 to 30914295 |
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| Intellectual disability v2.978 | TSEN15 |
Catherine Snow Added phenotypes Pontocerebellar hypoplasia, type 2F, 617026 for gene: TSEN15 Publications for gene TSEN15 were changed from 27392077; 25558065 to 27392077; 30914295; 25558065 |
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| Intellectual disability v2.978 | TKT |
Catherine Snow gene: TKT was added gene: TKT was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: TKT was set to Publications for gene: TKT were set to 27259054; 30914295 Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, 617044 |
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| Intellectual disability v2.978 | SUFU |
Catherine Snow gene: SUFU was added gene: SUFU was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SUFU was set to Publications for gene: SUFU were set to 28965847; 30914295 Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757 |
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| Intellectual disability v2.978 | SRP54 |
Catherine Snow gene: SRP54 was added gene: SRP54 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SRP54 was set to Publications for gene: SRP54 were set to 28972538; 30914295 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
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| Intellectual disability v2.978 | SMG9 |
Catherine Snow gene: SMG9 was added gene: SMG9 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SMG9 was set to Publications for gene: SMG9 were set to 27018474; 30914295 Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920 |
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| Intellectual disability v2.978 | SLC5A7 |
Catherine Snow gene: SLC5A7 was added gene: SLC5A7 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SLC5A7 was set to Publications for gene: SLC5A7 were set to 30914295; 27569547 Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143 |
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| Intellectual disability v2.978 | SCYL1 |
Catherine Snow gene: SCYL1 was added gene: SCYL1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SCYL1 was set to Publications for gene: SCYL1 were set to 26581903; 30914295 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 |
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| Intellectual disability v2.978 | RSPRY1 |
Catherine Snow gene: RSPRY1 was added gene: RSPRY1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: RSPRY1 was set to Publications for gene: RSPRY1 were set to 26365341; 30914295 Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 |
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| Intellectual disability v2.978 | RNF13 |
Catherine Snow Source Expert Review was added to RNF13. Source Expert Review Amber was added to RNF13. Added phenotypes Epileptic encephalopathy, early infantile, 73, 618379 for gene: RNF13 Publications for gene RNF13 were changed from to 30595371 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | RAB11A |
Catherine Snow Source Expert Review was added to RAB11A. Source Expert Review Amber was added to RAB11A. Added phenotypes Global developmental delay, Intellectual disability for gene: RAB11A Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | PTRHD1 |
Catherine Snow Source Expert Review was added to PTRHD1. Source Expert Review Amber was added to PTRHD1. Added phenotypes Parkinsonism, Intellectual disability for gene: PTRHD1 Publications for gene PTRHD1 were changed from 30398675; 27134041; 29143421; 27753167 to 30398675; 27134041; 27753167; 29143421 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | PTRH2 |
Catherine Snow Source Expert Review was added to PTRH2. Source Expert Review Amber was added to PTRH2. Added phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 for gene: PTRH2 Publications for gene PTRH2 were changed from 25574476; 27129381; 25558065; 28328138; 28175314 to 25574476; 28175314; 28328138; 25558065; 27129381 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | PLEKHG2 |
Catherine Snow Source Expert Review was added to PLEKHG2. Source Expert Review Amber was added to PLEKHG2. Added phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, 616763 for gene: PLEKHG2 Publications for gene PLEKHG2 were changed from 26539891; 26573021; 24001768 to 26539891; 24001768; 26573021 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | LSS |
Catherine Snow Source Expert Review was added to LSS. Source Expert Review Amber was added to LSS. Added phenotypes Cataract 44, Hypotrichosis 14, 616509, 618275 for gene: LSS Publications for gene LSS were changed from 30723320; 30401459 to 30723320; 26200341; 30401459; 29016354 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | LIPT2 |
Catherine Snow gene: LIPT2 was added gene: LIPT2 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: LIPT2 was set to Publications for gene: LIPT2 were set to 28628643; 30914295 Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 |
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| Intellectual disability v2.978 | LIAS |
Catherine Snow gene: LIAS was added gene: LIAS was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: LIAS was set to Publications for gene: LIAS were set to 22152680; 26108146; 24334290; 30914295 Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures, 614462 |
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| Intellectual disability v2.978 | GTF2E2 |
Catherine Snow gene: GTF2E2 was added gene: GTF2E2 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to Publications for gene: GTF2E2 were set to 30914295; 26996949 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943 |
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| Intellectual disability v2.978 | GMNN |
Catherine Snow gene: GMNN was added gene: GMNN was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GMNN was set to Publications for gene: GMNN were set to 26637980; 30914295 Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835 |
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| Intellectual disability v2.978 | FUK |
Catherine Snow Source Expert Review was added to FUK. Source Expert Review Amber was added to FUK. Added phenotypes Congenital disorder of glycosylation with defective fucosylation 2, 618324 for gene: FUK Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | FRRS1L |
Catherine Snow Source Expert Review Amber was added to FRRS1L. Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L Publications for gene FRRS1L were changed from 27236917; 27239025; 21147040; 29276473 to 29276473; 27239025; 21147040; 27236917; 30914295 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | EMG1 |
Catherine Snow gene: EMG1 was added gene: EMG1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: EMG1 was set to Publications for gene: EMG1 were set to 30914295 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 |
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| Intellectual disability v2.978 | DYNC1I2 |
Catherine Snow Source Expert Review was added to DYNC1I2. Source Expert Review Amber was added to DYNC1I2. Added phenotypes Abnormality of head or neck; Microcephaly; Abnormality of nervous system morphology; Intellectual disability for gene: DYNC1I2 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | DONSON |
Catherine Snow Source Expert Review was added to DONSON. Source Expert Review Amber was added to DONSON. Added phenotypes Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230 for gene: DONSON Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.978 | ZNF462 |
Catherine Snow Source Expert Review Green was added to ZNF462. Source Expert Review was added to ZNF462. Added phenotypes Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior for gene: ZNF462 Publications for gene ZNF462 were changed from 28513610; 29427787; 14564155; 12825074 to 28513610; 12825074; 29427787; 14564155 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | ZNF142 |
Catherine Snow Source Expert Review Green was added to ZNF142. Source Expert Review was added to ZNF142. Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | ZMIZ1 |
Catherine Snow Source Expert Review Green was added to ZMIZ1. Source Expert Review was added to ZMIZ1. Added phenotypes Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck for gene: ZMIZ1 Publications for gene ZMIZ1 were changed from 29754769; 18053775; 17967885; 26163108; 27479843 to 29754769; 18053775; 17967885; 30639322; 26163108; 27479843 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | WARS2 |
Catherine Snow Source Expert Review Green was added to WARS2. Source Expert Review was added to WARS2. Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2 Publications for gene WARS2 were changed from 28236339; 28650581; 28905505; 29783990; 29120065 to 29783990; 28236339; 29120065; 28650581; 28905505 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | VARS |
Catherine Snow Source Expert Review Green was added to VARS. Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS Publications for gene VARS were changed from 26539891; 29691655; 30275004 to 26539891; 30275004; 29691655 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | VAMP2 |
Catherine Snow Source Expert Review Green was added to VAMP2. Source Expert Review was added to VAMP2. Added phenotypes Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | UFM1 |
Catherine Snow Source Expert Review Green was added to UFM1. Added phenotypes Leukodystrophy, hypomyelinating, 14, 617899 for gene: UFM1 Publications for gene UFM1 were changed from 28931644; 29868776; 30237576 to 28931644; 29868776; 30914295 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v2.978 | TRRAP |
Catherine Snow Source Expert Review Green was added to TRRAP. Source Expert Review was added to TRRAP. Added phenotypes Developmental delay with or without dysmorphic facies and autism, 603015 for gene: TRRAP Publications for gene TRRAP were changed from 30827496 to 30827496; 30424743 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | TRAIP |
Catherine Snow gene: TRAIP was added gene: TRAIP was added to Intellectual disability. Sources: Expert Review Green,Literature Mode of inheritance for gene: TRAIP was set to Publications for gene: TRAIP were set to 26595769; 30914295 Phenotypes for gene: TRAIP were set to Seckel syndrome 9, 616777 |
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| Intellectual disability v2.978 | SNAP25 |
Catherine Snow Source Expert Review Green was added to SNAP25. Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: SNAP25 Publications for gene SNAP25 were changed from 29491473; 28135719; 29100083; 25381298; 25003006 to 29100083; 28135719; 25003006; 29491473; 25381298; 30914295 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | RPIA |
Catherine Snow Source Expert Review Green was added to RPIA. Source Expert Review was added to RPIA. Added phenotypes ?Ribose 5-phosphate isomerase deficiency, 608611 for gene: RPIA Publications for gene RPIA were changed from 14988808; 20499043; 28801340; 30088433 to 20499043; 31056085; 14988808; 30088433; 28801340 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | RALA |
Catherine Snow Source Expert Review Green was added to RALA. Source Expert Review was added to RALA. Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology for gene: RALA Publications for gene RALA were changed from to 30500825 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | RAC3 |
Catherine Snow Source Expert Review Green was added to RAC3. Source Expert Review was added to RAC3. Added phenotypes Abnormality of brain morphology, Abnormal muscle tone, Neurodevelopmental delay, Intellectual disability for gene: RAC3 Publications for gene RAC3 were changed from 30293988; 29276006 to 29276006; 30293988 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PUS7 |
Catherine Snow Source Expert Review Green was added to PUS7. Source Expert Review was added to PUS7. Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7 Publications for gene PUS7 were changed from to 30778726; 30526862 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PUS3 |
Catherine Snow Source Expert Review Green was added to PUS3. Source Expert Review was added to PUS3. Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3 Publications for gene PUS3 were changed from 27055666; 30308082 to 30697592; 30308082; 27055666 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PRR12 |
Catherine Snow Source Expert Review Green was added to PRR12. Source Expert Review was added to PRR12. Added phenotypes Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality for gene: PRR12 Publications for gene PRR12 were changed from 29556724; 26163108 to 28135719; 26163108; 29556724 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PPP2CA |
Catherine Snow Source Expert Review Green was added to PPP2CA. Source Expert Review was added to PPP2CA. Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA Publications for gene PPP2CA were changed from 29274472; 30030003 to 29274472; 30030003; 30595372 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PPP1R21 |
Catherine Snow Source Expert Review Green was added to PPP1R21. Source Expert Review was added to PPP1R21. Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system, Hepatosplenomegaly for gene: PPP1R21 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PITRM1 |
Catherine Snow Source Expert Review Green was added to PITRM1. Source Expert Review was added to PITRM1. Added phenotypes Ataxia; Intellectual disability for gene: PITRM1 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | PIGG |
Catherine Snow Source Expert Review Green was added to PIGG. Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG Publications for gene PIGG were changed from 26996948; 28581210 to 28581210; 26996948; 30914295 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | P4HTM |
Catherine Snow Source Expert Review Green was added to P4HTM. Source Expert Review was added to P4HTM. Added phenotypes Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia for gene: P4HTM Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | MRPS34 |
Catherine Snow gene: MRPS34 was added gene: MRPS34 was added to Intellectual disability. Sources: Expert Review Green,Literature Mode of inheritance for gene: MRPS34 was set to Publications for gene: MRPS34 were set to 30914295; 28777931 Phenotypes for gene: MRPS34 were set to Combined oxidativephosphorylation deficiency 32, 617664 |
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| Intellectual disability v2.978 | GPT2 |
Catherine Snow Source Expert Review Green was added to GPT2. Source Expert Review was added to GPT2. Added phenotypes Mental retardation, autosomal recessive 49, 138210 for gene: GPT2 Publications for gene GPT2 were changed from PMID: 25758935; 27601654; 28130718; 29226631 to 27601654; 28130718; 29226631; 25758935 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | GNB5 |
Catherine Snow Source Expert Review Green was added to GNB5. Added phenotypes Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Intellectual developmental disorder with cardiac arrhythmia, 617173 for gene: GNB5 Publications for gene GNB5 were changed from 27523599; 27677260; 28697420; 29368331 to 27677260; 28697420; 29368331; 30914295; 27523599 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | FBXL3 |
Catherine Snow Source Expert Review Green was added to FBXL3. Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | FARS2 |
Catherine Snow Source Expert Review Green was added to FARS2. Source Expert Review was added to FARS2. Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | EMC1 |
Catherine Snow Source Expert Review Green was added to EMC1. Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1 Publications for gene EMC1 were changed from 26942288; 29271071 to 29271071; 26942288; 30914295 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | DPH1 |
Catherine Snow Source Expert Review Green was added to DPH1. Added phenotypes Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 for gene: DPH1 Publications for gene DPH1 were changed from 25558065; 26220823; 29362492; 29410513 to 29362492; 29410513; 26220823; 25558065 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | DHPS |
Catherine Snow Source Expert Review Green was added to DHPS. Source Expert Review was added to DHPS. Added phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck for gene: DHPS Publications for gene DHPS were changed from 21389784; 21850436 to 21389784; 30661771; 21850436 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | DDX59 |
Catherine Snow Source Expert Review Green was added to DDX59. Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59 Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 28711741; 29127725; 23972372; 30914295 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | DCPS |
Catherine Snow Source Expert Review Green was added to DCPS. Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS Publications for gene DCPS were changed from 25712129; 25701870; 30289615 to 25701870; 30289615; 25712129 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | CYFIP2 |
Catherine Snow Source Expert Review Green was added to CYFIP2. Source Expert Review was added to CYFIP2. Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2 Publications for gene CYFIP2 were changed from 29534297; 29667327; 30664714; 25432536; 27524794; 12818175; 20537992 to 12818175; 30664714; 20537992; 29534297; 25432536; 27524794; 29667327 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | CUX1 |
Catherine Snow Source Expert Review Green was added to CUX1. Source Expert Review was added to CUX1. Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1 Publications for gene CUX1 were changed from 30014507; 20510857; 25059644 to 25059644; 20510857; 30014507 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | CARS |
Catherine Snow Source Expert Review Green was added to CARS. Source Expert Review was added to CARS. Added phenotypes Brittle hair; Fragile nails; Microcephaly; Neurodevelopmental delay for gene: CARS Publications for gene CARS were changed from to 30824121 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | CAD |
Catherine Snow Source Expert Review Green was added to CAD. Added phenotypes Epileptic encephalopathy, early infantile, 50 - MIM 616457 for gene: CAD Publications for gene CAD were changed from 25678555; 28007989 to 25678555; 28007989; 30914295 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | CACNA1B |
Catherine Snow Source Expert Review was added to CACNA1B. Added phenotypes Global developmental delay; Seizures; Intellectual disability; Abnormality of movement; Developmental regression for gene: CACNA1B Publications for gene CACNA1B were changed from 30982612; 25296916 to 26157024; 30982612 |
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| Intellectual disability v2.978 | BRSK2 |
Catherine Snow Source Expert Review Green was added to BRSK2. Source Expert Review was added to BRSK2. Added phenotypes Global developmental delay, Intellectual disability, Autism, Behavioral abnormality for gene: BRSK2 Publications for gene BRSK2 were changed from https://doi.org/10.1016/j.ajhg.2019.02.002 to 15705853; 23715323; 30879638; 25363768; 28135719 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | AP2M1 |
Catherine Snow Source Expert Review Green was added to AP2M1. Source Expert Review was added to AP2M1. Added phenotypes Seizures; Ataxia; Generalized hypotonia; Intellectual disability; Global developmental delay; Autistic behavior for gene: AP2M1 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.978 | ALKBH8 |
Catherine Snow Source Expert Review Green was added to ALKBH8. Source Expert Review was added to ALKBH8. Added phenotypes Global developmental delay; Seizures; Intellectual disability for gene: ALKBH8 Publications for gene ALKBH8 were changed from 31079898 to 31130284; 31079898 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.977 | FRMPD4 |
Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion. Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported. Some functional work performed but only for the frameshift variant that was reported in family 1. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion. Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported. Some functional work performed but only for the frameshift variant that was reported in family 1. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only heterozygous carrier who displays ID features. |
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| Intellectual disability v2.977 | FRMPD4 |
Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion. Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported Some functional work on mice performed. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion. Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported. Some functional work performed but only for the frameshift variant that was reported in family 1. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features. |
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| Paediatric disorders v3.581 | Rebecca Foulger Changed child panels to: Intellectual disability; Skeletal dysplasia; Rare multisystem ciliopathy disorders; DDG2P; Inborn errors of metabolism; Familial non syndromic congenital heart disease; Limb disorders; Paediatric disorders - additional genes; Skeletal ciliopathies; Ophthalmological ciliopathies; Neurological ciliopathies; Renal ciliopathies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v0.3 | ZNF423 |
Ellen McDonagh gene: ZNF423 was added gene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 |
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| Neurological ciliopathies v0.3 | SUFU |
Ellen McDonagh gene: SUFU was added gene: SUFU was added to Neurological ciliopathies. Sources: Expert Review Amber Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757 |
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| Neurological ciliopathies v0.3 | POC1B |
Ellen McDonagh gene: POC1B was added gene: POC1B was added to Neurological ciliopathies. Sources: Expert Review Amber Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Joubert Syndrome; Senior-Loken Syndrome |
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| Neurological ciliopathies v0.3 | WDR63 |
Ellen McDonagh gene: WDR63 was added gene: WDR63 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: WDR63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR63 were set to occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder |
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| Neurological ciliopathies v0.3 | TBC1D32 |
Ellen McDonagh gene: TBC1D32 was added gene: TBC1D32 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) |
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| Neurological ciliopathies v0.3 | TAPT1 |
Ellen McDonagh gene: TAPT1 was added gene: TAPT1 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 26365339 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 |
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| Neurological ciliopathies v0.3 | PIBF1 |
Ellen McDonagh gene: PIBF1 was added gene: PIBF1 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768 Phenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia |
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| Neurological ciliopathies v0.3 | PDE6D |
Ellen McDonagh gene: PDE6D was added gene: PDE6D was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22; Joubert Syndrome and Senior-Loken Syndrome 24 gene panel; ?Joubert syndrome 22, 615665 |
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| Neurological ciliopathies v0.3 | KIF14 |
Ellen McDonagh gene: KIF14 was added gene: KIF14 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 24128419 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis |
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| Neurological ciliopathies v0.3 | KIAA0556 |
Ellen McDonagh gene: KIAA0556 was added gene: KIAA0556 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0556 were set to ?Joubert syndrome 26 |
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| Neurological ciliopathies v0.3 | EXOC8 |
Ellen McDonagh gene: EXOC8 was added gene: EXOC8 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: EXOC8 was set to Unknown Publications for gene: EXOC8 were set to 22700954 Phenotypes for gene: EXOC8 were set to No OMIM phenotype; Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) |
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| Neurological ciliopathies v0.3 | EXOC3L2 |
Ellen McDonagh gene: EXOC3L2 was added gene: EXOC3L2 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios |
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| Neurological ciliopathies v0.3 | B9D1 |
Ellen McDonagh gene: B9D1 was added gene: B9D1 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27 |
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| Neurological ciliopathies v0.3 | ZSWIM6 |
Ellen McDonagh gene: ZSWIM6 was added gene: ZSWIM6 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to 25105228 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671 Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments |
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| Neurological ciliopathies v0.3 | VPS13B |
Ellen McDonagh gene: VPS13B was added gene: VPS13B was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; COHEN SYNDROME |
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| Neurological ciliopathies v0.3 | TXNDC15 |
Ellen McDonagh gene: TXNDC15 was added gene: TXNDC15 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 27894351 Phenotypes for gene: TXNDC15 were set to MGS; Meckel-Gruber syndrome |
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| Neurological ciliopathies v0.3 | TMEM67 |
Ellen McDonagh gene: TMEM67 was added gene: TMEM67 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 20607301; PMID: 18327255 Phenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360 |
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| Neurological ciliopathies v0.3 | TMEM237 |
Ellen McDonagh gene: TMEM237 was added gene: TMEM237 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 20301500 Phenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14 |
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| Neurological ciliopathies v0.3 | TMEM231 |
Ellen McDonagh gene: TMEM231 was added gene: TMEM231 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 |
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| Neurological ciliopathies v0.3 | TMEM216 |
Ellen McDonagh gene: TMEM216 was added gene: TMEM216 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 22282472; 20036350; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2 |
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| Neurological ciliopathies v0.3 | TMEM138 |
Ellen McDonagh gene: TMEM138 was added gene: TMEM138 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM138 were set to 22282472 Phenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16 |
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| Neurological ciliopathies v0.3 | TMEM107 |
Ellen McDonagh gene: TMEM107 was added gene: TMEM107 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26518474; 26123494; 22698544; 26595381 Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 617562; ?Joubert syndrome 29 617562; Orofaciodigital syndrome XVI 617563 |
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| Neurological ciliopathies v0.3 | TCTN3 |
Ellen McDonagh gene: TCTN3 was added gene: TCTN3 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 25118024; 22883145 Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV; Joubert syndrome 18; Meckel-Gruber; Mohr-Majewski syndrome |
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| Neurological ciliopathies v0.3 | TCTN2 |
Ellen McDonagh gene: TCTN2 was added gene: TCTN2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN2 were set to 25118024; 21565611 Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome |
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| Neurological ciliopathies v0.3 | TCTN1 |
Ellen McDonagh gene: TCTN1 was added gene: TCTN1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893 Phenotypes for gene: TCTN1 were set to Joubert syndrome |
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| Neurological ciliopathies v0.3 | SCLT1 |
Ellen McDonagh gene: SCLT1 was added gene: SCLT1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 15797711 Phenotypes for gene: SCLT1 were set to Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36); No OMIM phenotype |
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| Neurological ciliopathies v0.3 | RPGRIP1L |
Ellen McDonagh gene: RPGRIP1L was added gene: RPGRIP1L was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260 Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome |
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| Neurological ciliopathies v0.3 | PMM2 |
Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 9140401 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065 |
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| Neurological ciliopathies v0.3 | OFD1 |
Ellen McDonagh gene: OFD1 was added gene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: OFD1 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: OFD1 were set to 19800048; 22353940 Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I |
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| Neurological ciliopathies v0.3 | NPHP3 |
Ellen McDonagh gene: NPHP3 was added gene: NPHP3 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis |
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| Neurological ciliopathies v0.3 | NPHP1 |
Ellen McDonagh gene: NPHP1 was added gene: NPHP1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444 Phenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis |
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| Neurological ciliopathies v0.3 | MKS1 |
Ellen McDonagh gene: MKS1 was added gene: MKS1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKS1 were set to 26490104; 17437276; 18327255; 24886560; 16415886 Phenotypes for gene: MKS1 were set to occipital encephalocele; Joubert syndrome; Bardet-Biedl syndrome; Joubert syndrome 28; 249000; polydactyly; polycystic kidneys; Meckel-Gruber syndrome; Meckel syndrome; renal fibrosis Mode of pathogenicity for gene: MKS1 was set to Other - please provide details in the comments |
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| Neurological ciliopathies v0.3 | KIF7 |
Ellen McDonagh gene: KIF7 was added gene: KIF7 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990 |
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| Neurological ciliopathies v0.3 | KIAA0753 |
Ellen McDonagh gene: KIAA0753 was added gene: KIAA0753 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to 26643951 Phenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV 617127 |
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| Neurological ciliopathies v0.3 | KIAA0586 |
Ellen McDonagh gene: KIAA0586 was added gene: KIAA0586 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26096313 Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly |
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| Neurological ciliopathies v0.3 | INPP5E |
Ellen McDonagh gene: INPP5E was added gene: INPP5E was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1 |
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| Neurological ciliopathies v0.3 | ICK |
Ellen McDonagh gene: ICK was added gene: ICK was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622; 27466187 Phenotypes for gene: ICK were set to short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO |
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| Neurological ciliopathies v0.3 | HYLS1 |
Ellen McDonagh gene: HYLS1 was added gene: HYLS1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680 |
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| Neurological ciliopathies v0.3 | GLI3 |
Ellen McDonagh gene: GLI3 was added gene: GLI3 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel |
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| Neurological ciliopathies v0.3 | EVC2 |
Ellen McDonagh gene: EVC2 was added gene: EVC2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 |
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| Neurological ciliopathies v0.3 | EVC |
Ellen McDonagh gene: EVC was added gene: EVC was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 |
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| Neurological ciliopathies v0.3 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400 |
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| Neurological ciliopathies v0.3 | DDX59 |
Ellen McDonagh gene: DDX59 was added gene: DDX59 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 29127725; 23972372; 28711741 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 |
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| Neurological ciliopathies v0.3 | CSPP1 |
Ellen McDonagh gene: CSPP1 was added gene: CSPP1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360807; 24360803; 24360808 Phenotypes for gene: CSPP1 were set to Joubert syndrome; Meckel syndrome; Joubert syndrome 21; Meckel-Gruber syndrome |
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| Neurological ciliopathies v0.3 | CRB2 |
Ellen McDonagh gene: CRB2 was added gene: CRB2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730 |
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| Neurological ciliopathies v0.3 | CEP41 |
Ellen McDonagh gene: CEP41 was added gene: CEP41 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to Joubert syndrome 15 |
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| Neurological ciliopathies v0.3 | CEP290 |
Ellen McDonagh gene: CEP290 was added gene: CEP290 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20690115; 18327255 Phenotypes for gene: CEP290 were set to 610189; Meckel syndrome 4; Senior-Loken syndrome; 611755; Joubert syndrome 5; Joubert syndrome with oculorenal defect; 610188; Senior-Loken syndrome 6; 611134; Meckel syndrome |
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| Neurological ciliopathies v0.3 | CEP104 |
Ellen McDonagh gene: CEP104 was added gene: CEP104 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25 |
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| Neurological ciliopathies v0.3 | CENPF |
Ellen McDonagh gene: CENPF was added gene: CENPF was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
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| Neurological ciliopathies v0.3 | CC2D2A |
Ellen McDonagh gene: CC2D2A was added gene: CC2D2A was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome |
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| Neurological ciliopathies v0.3 | C5orf42 |
Ellen McDonagh gene: C5orf42 was added gene: C5orf42 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360 Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17 |
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| Neurological ciliopathies v0.3 | C2CD3 |
Ellen McDonagh gene: C2CD3 was added gene: C2CD3 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867 Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) |
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| Neurological ciliopathies v0.3 | B9D2 |
Ellen McDonagh gene: B9D2 was added gene: B9D2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes; 26092869 - two further cases with Joubert syndrome reported from two different families Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome |
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| Neurological ciliopathies v0.3 | ARMC9 |
Ellen McDonagh gene: ARMC9 was added gene: ARMC9 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622 |
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| Neurological ciliopathies v0.3 | ARL13B |
Ellen McDonagh gene: ARL13B was added gene: ARL13B was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 25138100 Phenotypes for gene: ARL13B were set to Joubert syndrome 8 |
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| Neurological ciliopathies v0.3 | AHI1 |
Ellen McDonagh gene: AHI1 was added gene: AHI1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3. |
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| Neurological ciliopathies v0.2 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.977 | FRMPD4 |
Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported Some functional work on mice performed. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion. Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported Some functional work on mice performed. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features. |
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| Intellectual disability v2.977 | FRMPD4 |
Catherine Snow changed review comment from: PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported Some functional work on mice performed. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381. Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled. No further segregation information for the two families was reported Some functional work on mice performed. Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features. |
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| Intellectual disability v2.977 | FRMPD4 | Catherine Snow reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.320 | VDR | Rebecca Foulger commented on gene: VDR: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.320 | TERT | Rebecca Foulger Classified gene: TERT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.320 | TERT | Rebecca Foulger Gene: tert has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.319 | TERT | Rebecca Foulger commented on gene: TERT: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita couldn't see any reason for inclusion on this panel, so have demoted rating from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.319 | TGFB1 | Rebecca Foulger Classified gene: TGFB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.319 | TGFB1 | Rebecca Foulger Gene: tgfb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | TGFB1 | Rebecca Foulger commented on gene: TGFB1: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita said seemed unlikely to present in a fetus so demoted rating from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.977 | KIF2A |
Catherine Snow changed review comment from: Three further cases identified in the literature. PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 1 had DD, no epilepsy but was only 9 months old at last reporting. Case 2 had neonatal seizures and severe DD. PMID:27896282 (Tian et al 2016) report a patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous variant in KIF2A (p.Thr320Ile). Therefore upgrading rating from Amber to Green as now sufficient (>3) unrelated cases.; to: Three further cases identified in the literature. PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 1 had DD, no epilepsy but was only 9 months old at last reporting. Case 2 had neonatal seizures and severe DD. PMID:27896282 (Tian et al 2016) report a patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous variant in KIF2A (p.Thr320Ile). Most cases identified have epilepsy first however as one individual did not have seizures KIF2A is relevant for the ID panel. Therefore upgrading rating from Amber to Green as now sufficient (>3) unrelated cases. |
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| Fetal anomalies v0.318 | TUBB2A | Rebecca Foulger edited their review of gene: TUBB2A: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | SOX9 | Rebecca Foulger edited their review of gene: SOX9: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | ROBO1 | Rebecca Foulger edited their review of gene: ROBO1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | RIPK4 | Rebecca Foulger edited their review of gene: RIPK4: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | PTPN11 | Rebecca Foulger edited their review of gene: PTPN11: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | POMK | Rebecca Foulger edited their review of gene: POMK: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | PIK3CA | Rebecca Foulger edited their review of gene: PIK3CA: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | KIAA1109 | Rebecca Foulger edited their review of gene: KIAA1109: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | IARS | Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | HRAS | Rebecca Foulger edited their review of gene: HRAS: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | HNRNPK | Rebecca Foulger edited their review of gene: HNRNPK: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | FOXP3 | Rebecca Foulger edited their review of gene: FOXP3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | FANCB | Rebecca Foulger edited their review of gene: FANCB: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | CYP11A1 | Rebecca Foulger edited their review of gene: CYP11A1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | ARL13B | Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | AMER1 | Rebecca Foulger edited their review of gene: AMER1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | ADAMTS17 | Rebecca Foulger edited their review of gene: ADAMTS17: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | BBS4 | Rebecca Foulger edited their review of gene: BBS4: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | MYH10 | Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | MYH10 | Rebecca Foulger Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.977 | DLG4 | Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.976 | DLG4 | Catherine Snow Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.317 | MYH10 | Rebecca Foulger Added comment: Comment on phenotypes: Added Prenatal imaging phenotype reported in Petrovski et al., 2018 (PMID:30712878) Table 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.317 | MYH10 | Rebecca Foulger Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.976 | DLG4 | Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.976 | DLG4 | Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.316 | INTU | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.316 | INTU | Rebecca Foulger Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.975 | DLG4 | Catherine Snow reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.315 | FRMD4A | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.315 | FRMD4A | Rebecca Foulger Mode of inheritance for gene: FRMD4A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.314 | EIF2B2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.314 | EIF2B2 | Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.313 | DOK7 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.313 | DOK7 | Rebecca Foulger Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.312 | NDUFAF5 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.312 | NDUFAF5 | Rebecca Foulger Mode of inheritance for gene: NDUFAF5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DOK7 | Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GATA2 | Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MSH2 | Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MSH6 | Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MLH1 | Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ABCD4 | Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PTEN | Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | USP18 | Rebecca Foulger commented on gene: USP18: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MITF | Rebecca Foulger commented on gene: MITF: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ANO5 | Rebecca Foulger edited their review of gene: ANO5: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Melita Irving. Outcome of review: gnathodiaphyseal dysplasia seemed unlikely to present in a fetus, therefore Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | RET | Rebecca Foulger edited their review of gene: RET: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Moin Saleem (University of Bristol). Outcome of review: Rate as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ABCC8 | Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MRPS22 | Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SCN2A | Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | RAC1 | Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MYH10 | Rebecca Foulger reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFAF5 | Rebecca Foulger reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940309, 21620786, 30266093; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | INTU | Rebecca Foulger reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28289185, 29451301; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FRMD4A | Rebecca Foulger reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388005, 30214071; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | EIF2B2 | Rebecca Foulger reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28597716; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DOK7 | Rebecca Foulger reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ACTA1 | Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TCTN2 | Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | BCL9L | Rebecca Foulger reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: ; Publications: 23035047; Phenotypes: Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | BRAT1 | Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | CNOT1 | Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SBDS | Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TCF20 | Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | KMT2E | Rebecca Foulger edited their review of gene: KMT2E: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate KMT2E as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DDHD2 | Rebecca Foulger edited their review of gene: DDHD2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate DDHD2 as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NAGLU | Rebecca Foulger commented on gene: NAGLU: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MANBA | Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MAN2B1 | Rebecca Foulger edited their review of gene: MAN2B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Red- not structural phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MAN1B1 | Rebecca Foulger commented on gene: MAN1B1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- mild dysmorphic phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | IDUA | Rebecca Foulger edited their review of gene: IDUA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-Umbilical hernia, may cause hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GM2A | Rebecca Foulger commented on gene: GM2A: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- neurological phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GAA | Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FUCA1 | Rebecca Foulger commented on gene: FUCA1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SUMF1 | Rebecca Foulger edited their review of gene: SUMF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green- Severe form has IUGR & micrognathia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SGSH | Rebecca Foulger commented on gene: SGSH: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TTC19 | Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TMEM70 | Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TMEM126B | Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TK2 | Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SURF1 | Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SLC25A26 | Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SDHAF1 | Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SDHA | Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SCO2 | Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SCO1 | Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | POLG | Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PNPT1 | Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PDSS2 | Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PDHX | Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PC | Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NFU1 | Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFV1 | Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFS8 | Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFS7 | Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFS4 | Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFS1 | Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDUFA1 | Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MT-TP | Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MPV17 | Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | LRPPRC | Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FARS2 | Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DLD | Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | COX6B1 | Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | COX15 | Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | COX10 | Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | COQ8A | Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | COQ2 | Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | BCS1L | Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SLC39A13 | Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SMAD3 | Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | CYP1B1 | Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SCN4A | Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NDP | Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | NPHP4 | Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DPAGT1 | Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FKTN | Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | HGSNAT | Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PMS2 | Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MMACHC | Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | LMBRD1 | Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MMADHC | Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | HCFC1 | Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SETD5 | Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GALC | Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | ROGDI | Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DNMT3B | Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TUBB4A | Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FTL | Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GCDH | Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Phenotypes include macrocephaly, structural brain- usually present with metabolic crises. Therefore upgrade from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GALK1 | Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FH | Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GALE | Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | TBCE | Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | WRAP53 | Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | LAMP2 | Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | FOXG1 | Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PAX8 | Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | UROS | Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PAX6 | Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | BFSP2 | Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | HDAC4 | Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | POLR3B | Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | SLC25A38 | Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | MSH2 |
Rebecca Foulger Source Expert Review Red was added to MSH2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MSH6 |
Rebecca Foulger Source Expert Review Red was added to MSH6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MLH1 |
Rebecca Foulger Source Expert Review Red was added to MLH1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | PTEN |
Rebecca Foulger Source Expert Review Red was added to PTEN. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | ANO5 |
Rebecca Foulger Source Expert Review Red was added to ANO5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | RET |
Rebecca Foulger Source Expert Review Green was added to RET. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | ABCC8 |
Rebecca Foulger Source Expert Review Red was added to ABCC8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MRPS22 |
Rebecca Foulger Source Expert Review Green was added to MRPS22. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | SCN2A |
Rebecca Foulger Source Expert Review Green was added to SCN2A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | RAC1 |
Rebecca Foulger Source Expert Review Green was added to RAC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | MYH10 |
Rebecca Foulger gene: MYH10 was added gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 30712878 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies |
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| Fetal anomalies v0.310 | NDUFAF5 |
Rebecca Foulger gene: NDUFAF5 was added gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238 |
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| Fetal anomalies v0.310 | INTU |
Rebecca Foulger gene: INTU was added gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 28289185; 30266093; 29451301 Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 |
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| Fetal anomalies v0.310 | FRMD4A |
Rebecca Foulger gene: FRMD4A was added gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071 Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 |
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| Fetal anomalies v0.310 | EIF2B2 |
Rebecca Foulger gene: EIF2B2 was added gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 30266093; 28597716 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 |
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| Fetal anomalies v0.310 | DOK7 |
Rebecca Foulger gene: DOK7 was added gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 30266093 Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 |
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| Fetal anomalies v0.310 | ACTA1 |
Rebecca Foulger Source Expert Review Green was added to ACTA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | TCTN2 |
Rebecca Foulger Source Expert Review Green was added to TCTN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | BCL9L |
Rebecca Foulger gene: BCL9L was added gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL9L were set to 23035047 Phenotypes for gene: BCL9L were set to Heterotaxy |
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| Fetal anomalies v0.310 | BRAT1 |
Rebecca Foulger Source Expert Review Green was added to BRAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | CNOT1 |
Rebecca Foulger Source Expert Review Green was added to CNOT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | SBDS |
Rebecca Foulger Source Expert Review Green was added to SBDS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | TCF20 |
Rebecca Foulger Source Expert Review Amber was added to TCF20. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | KMT2E |
Rebecca Foulger Source Expert Review Red was added to KMT2E. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | DDHD2 |
Rebecca Foulger Source Expert Review Red was added to DDHD2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NAGLU |
Rebecca Foulger Source Expert Review Amber was added to NAGLU. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | MANBA |
Rebecca Foulger Source Expert Review Amber was added to MANBA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | MAN2B1 |
Rebecca Foulger Source Expert Review Red was added to MAN2B1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MAN1B1 |
Rebecca Foulger Source Expert Review Amber was added to MAN1B1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | GM2A |
Rebecca Foulger Source Expert Review Amber was added to GM2A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | FUCA1 |
Rebecca Foulger Source Expert Review Amber was added to FUCA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | SGSH |
Rebecca Foulger Source Expert Review Amber was added to SGSH. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | TTC19 |
Rebecca Foulger Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | TMEM70 |
Rebecca Foulger Source Expert Review Red was added to TMEM70. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | TMEM126B |
Rebecca Foulger Source Expert Review Red was added to TMEM126B. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | TK2 |
Rebecca Foulger Source Expert Review Red was added to TK2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | SURF1 |
Rebecca Foulger Source Expert Review Red was added to SURF1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | SLC25A26 |
Rebecca Foulger Source Expert Review Red was added to SLC25A26. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | SDHAF1 |
Rebecca Foulger Source Expert Review Red was added to SDHAF1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | SDHA |
Rebecca Foulger Source Expert Review Red was added to SDHA. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | SCO1 |
Rebecca Foulger Source Expert Review Red was added to SCO1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | POLG |
Rebecca Foulger Source Expert Review Red was added to POLG. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | PNPT1 |
Rebecca Foulger Source Expert Review Red was added to PNPT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | PDSS2 |
Rebecca Foulger Source Expert Review Red was added to PDSS2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | PDHX |
Rebecca Foulger Source Expert Review Red was added to PDHX. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | PC |
Rebecca Foulger Source Expert Review Red was added to PC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NFU1 |
Rebecca Foulger Source Expert Review Red was added to NFU1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFV1 |
Rebecca Foulger Source Expert Review Red was added to NDUFV1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFS8 |
Rebecca Foulger Source Expert Review Red was added to NDUFS8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFS7 |
Rebecca Foulger Source Expert Review Red was added to NDUFS7. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFS4 |
Rebecca Foulger Source Expert Review Red was added to NDUFS4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFS1 |
Rebecca Foulger Source Expert Review Red was added to NDUFS1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | NDUFA1 |
Rebecca Foulger Source Expert Review Red was added to NDUFA1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MT-TP |
Rebecca Foulger Source Expert Review Red was added to MT-TP. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | MPV17 |
Rebecca Foulger Source Expert Review Red was added to MPV17. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | LRPPRC |
Rebecca Foulger Source Expert Review Red was added to LRPPRC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | FARS2 |
Rebecca Foulger Source Expert Review Red was added to FARS2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | DLD |
Rebecca Foulger Source Expert Review Red was added to DLD. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | COX6B1 |
Rebecca Foulger Source Expert Review Red was added to COX6B1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | COX15 |
Rebecca Foulger Source Expert Review Red was added to COX15. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | COX10 |
Rebecca Foulger Source Expert Review Red was added to COX10. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | COQ8A |
Rebecca Foulger Source Expert Review Red was added to COQ8A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | COQ2 |
Rebecca Foulger Source Expert Review Red was added to COQ2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.310 | BCS1L | Rebecca Foulger Added phenotypes GRACILE syndrome, 603358 for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | SMAD3 |
Rebecca Foulger Source Expert Review Green was added to SMAD3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | CYP1B1 |
Rebecca Foulger Source Expert Review Green was added to CYP1B1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | SCN4A |
Rebecca Foulger Source Expert Review Green was added to SCN4A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | DNMT3A |
Rebecca Foulger Source Expert Review Green was added to DNMT3A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | NDP |
Rebecca Foulger Source Expert Review Green was added to NDP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | SMPD1 |
Rebecca Foulger Source Expert Review Green was added to SMPD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | NPHP4 |
Rebecca Foulger Source Expert Review Green was added to NPHP4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | DPAGT1 |
Rebecca Foulger Source Expert Review Green was added to DPAGT1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | FKTN |
Rebecca Foulger Source Expert Review Green was added to FKTN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | HGSNAT |
Rebecca Foulger Source Expert Review Amber was added to HGSNAT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.310 | MMACHC |
Rebecca Foulger Source Expert Review Green was added to MMACHC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | LMBRD1 |
Rebecca Foulger Source Expert Review Green was added to LMBRD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | MMADHC |
Rebecca Foulger Source Expert Review Green was added to MMADHC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | HCFC1 |
Rebecca Foulger Source Expert Review Green was added to HCFC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | ROGDI |
Rebecca Foulger Source Expert Review Green was added to ROGDI. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | DNMT3B |
Rebecca Foulger Source Expert Review Green was added to DNMT3B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | TUBB4A |
Rebecca Foulger Source Expert Review Green was added to TUBB4A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | FTL |
Rebecca Foulger Source Expert Review Green was added to FTL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | GCDH |
Rebecca Foulger Source Expert Review Green was added to GCDH. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | GALK1 |
Rebecca Foulger Source Expert Review Green was added to GALK1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | FH |
Rebecca Foulger Source Expert Review Green was added to FH. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | GALE |
Rebecca Foulger Source Expert Review Green was added to GALE. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | TBCE |
Rebecca Foulger Source Expert Review Green was added to TBCE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | WRAP53 |
Rebecca Foulger Source Expert Review Green was added to WRAP53. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | FOXG1 |
Rebecca Foulger Source Expert Review Green was added to FOXG1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | PAX8 |
Rebecca Foulger Source Expert Review Green was added to PAX8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | UROS |
Rebecca Foulger Source Expert Review Green was added to UROS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | PAX6 |
Rebecca Foulger Source Expert Review Green was added to PAX6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | BFSP2 |
Rebecca Foulger Source Expert Review Green was added to BFSP2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | POLR3B |
Rebecca Foulger Source Expert Review Green was added to POLR3B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.310 | SLC25A38 |
Rebecca Foulger Source Expert Review Green was added to SLC25A38. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Classified gene: PGAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.120 | PGAM2 | Sarah Leigh changed review comment from: Comment on list classification: Additional case with biallelic variant and rhabdomyolysis; to: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Classified gene: PGAM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.70 | PGAM2 | Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.69 | PGAM2 | Sarah Leigh Publications for gene: PGAM2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.68 | PGAM2 | Sarah Leigh Phenotypes for gene: PGAM2 were changed from Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders to Glycogen storage disease X 261670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.67 | MANBA | Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta to Mannosidosis, beta 248510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.120 | MANBA | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.66 | MANBA | Sarah Leigh Classified gene: MANBA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.66 | MANBA | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in 6 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.66 | MANBA | Sarah Leigh Gene: manba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.65 | ASAH1 | Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.64 | ASAH1 | Sarah Leigh Publications for gene: ASAH1 were set to 27604308; 29169047; 22703880; 24164096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.63 | ASAH1 | Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.63 | ASAH1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.63 | ASAH1 | Sarah Leigh Publications for gene: ASAH1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.63 | ASAH1 | Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Classified gene: ASAH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Classified gene: ASAH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.62 | ASAH1 | Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.15 | ZFYVE26 |
Catherine Snow Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26 |
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| Leukodystrophy, adult onset v0.15 | TYROBP |
Catherine Snow Mode of inheritance for gene TYROBP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP |
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| Leukodystrophy, adult onset v0.15 | TUBB4A |
Catherine Snow Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A |
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| Leukodystrophy, adult onset v0.15 | TREX1 |
Catherine Snow Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1 |
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| Leukodystrophy, adult onset v0.15 | TREM2 |
Catherine Snow Mode of inheritance for gene TREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2 |
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| Leukodystrophy, adult onset v0.15 | SPG11 |
Catherine Snow Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11 |
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| Leukodystrophy, adult onset v0.15 | SAMHD1 |
Catherine Snow Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1 |
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| Leukodystrophy, adult onset v0.15 | RPS6KA3 |
Catherine Snow Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Coffin-Lowry syndrome, 303600 for gene: RPS6KA3 |
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| Leukodystrophy, adult onset v0.15 | RNF216 |
Catherine Snow Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216 |
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| Leukodystrophy, adult onset v0.15 | RNASET2 |
Catherine Snow Mode of inheritance for gene RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2 |
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| Leukodystrophy, adult onset v0.15 | RNASEH2C |
Catherine Snow Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C |
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| Leukodystrophy, adult onset v0.15 | RNASEH2B |
Catherine Snow Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B |
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| Leukodystrophy, adult onset v0.15 | RNASEH2A |
Catherine Snow Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A |
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| Leukodystrophy, adult onset v0.15 | PTEN | Catherine Snow Mode of inheritance for gene PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.15 | PSAP |
Catherine Snow Mode of inheritance for gene PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Krabbe disease, atypical, 611722; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP |
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| Leukodystrophy, adult onset v0.15 | POLR3B |
Catherine Snow Mode of inheritance for gene POLR3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B |
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| Leukodystrophy, adult onset v0.15 | POLR3A |
Catherine Snow Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 for gene: POLR3A |
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| Leukodystrophy, adult onset v0.15 | POLR1C |
Catherine Snow Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 11 for gene: POLR1C |
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| Leukodystrophy, adult onset v0.15 | PLP1 |
Catherine Snow Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Pelizaeus-Merzbacher disease, 312080 for gene: PLP1 |
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| Leukodystrophy, adult onset v0.15 | PEX7 |
Catherine Snow Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7 |
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| Leukodystrophy, adult onset v0.15 | PEX6 |
Catherine Snow Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6 |
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| Leukodystrophy, adult onset v0.15 | PEX5 |
Catherine Snow Mode of inheritance for gene PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 2B, 202370; Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5 |
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| Leukodystrophy, adult onset v0.15 | PEX3 |
Catherine Snow Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3 |
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| Leukodystrophy, adult onset v0.15 | PEX26 |
Catherine Snow Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26 |
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| Leukodystrophy, adult onset v0.15 | PEX2 |
Catherine Snow Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866; Peroxisome biogenesis disorder 5B, 614867 for gene: PEX2 |
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| Leukodystrophy, adult onset v0.15 | PEX19 |
Catherine Snow Mode of inheritance for gene PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19 |
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| Leukodystrophy, adult onset v0.15 | PEX16 |
Catherine Snow Mode of inheritance for gene PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A (Zellweger), 614876 for gene: PEX16 |
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| Leukodystrophy, adult onset v0.15 | PEX14 |
Catherine Snow Mode of inheritance for gene PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14 |
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| Leukodystrophy, adult onset v0.15 | PEX13 |
Catherine Snow Mode of inheritance for gene PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883; Peroxisome biogenesis disorder 11B, 614885 for gene: PEX13 |
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| Leukodystrophy, adult onset v0.15 | PEX12 |
Catherine Snow Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12 |
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| Leukodystrophy, adult onset v0.15 | PEX11B |
Catherine Snow Mode of inheritance for gene PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B |
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| Leukodystrophy, adult onset v0.15 | PEX10 |
Catherine Snow Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10 |
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| Leukodystrophy, adult onset v0.15 | PEX1 |
Catherine Snow Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 for gene: PEX1 |
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| Leukodystrophy, adult onset v0.15 | PAH |
Catherine Snow Mode of inheritance for gene PAH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 for gene: PAH |
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| Leukodystrophy, adult onset v0.15 | OCRL |
Catherine Snow Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Lowe syndrome, 309000 for gene: OCRL |
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| Leukodystrophy, adult onset v0.15 | NOTCH3 |
Catherine Snow Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3 |
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| Leukodystrophy, adult onset v0.15 | MTHFR |
Catherine Snow Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR |
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| Leukodystrophy, adult onset v0.15 | MCOLN1 |
Catherine Snow Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1 |
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| Leukodystrophy, adult onset v0.15 | MARS |
Catherine Snow Mode of inheritance for gene MARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS |
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| Leukodystrophy, adult onset v0.15 | LMNB1 |
Catherine Snow Mode of inheritance for gene LMNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 for gene: LMNB1 |
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| Leukodystrophy, adult onset v0.15 | L2HGDH |
Catherine Snow Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH |
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| Leukodystrophy, adult onset v0.15 | KIF5A |
Catherine Snow Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditaryspastic paraplegia for gene: KIF5A |
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| Leukodystrophy, adult onset v0.15 | HTRA1 |
Catherine Snow Mode of inheritance for gene HTRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1 |
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| Leukodystrophy, adult onset v0.15 | HMGCL |
Catherine Snow Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HMG-CoA lyase deficiency, 246450 for gene: HMGCL |
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| Leukodystrophy, adult onset v0.15 | HEXA |
Catherine Snow Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 for gene: HEXA |
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| Leukodystrophy, adult onset v0.15 | HEPACAM |
Catherine Snow Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 for gene: HEPACAM |
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| Leukodystrophy, adult onset v0.15 | GLB1 |
Catherine Snow Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes white matter abnormality for gene: GLB1 |
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| Leukodystrophy, adult onset v0.15 | GLA |
Catherine Snow Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 for gene: GLA |
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| Leukodystrophy, adult onset v0.15 | GJC2 |
Catherine Snow Mode of inheritance for gene GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 2, 608804, for gene: GJC2 |
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| Leukodystrophy, adult onset v0.15 | GJB1 |
Catherine Snow Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1 |
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| Leukodystrophy, adult onset v0.15 | GJA1 |
Catherine Snow Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 for gene: GJA1 |
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| Leukodystrophy, adult onset v0.15 | GFAP |
Catherine Snow Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Alexander disease, 203450 for gene: GFAP |
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| Leukodystrophy, adult onset v0.15 | GBE1 |
Catherine Snow Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polyglucosan body disease, adult form, 263570 for gene: GBE1 |
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| Leukodystrophy, adult onset v0.15 | GALC |
Catherine Snow Mode of inheritance for gene GALC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Krabbe disease, 245200 for gene: GALC |
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| Leukodystrophy, adult onset v0.15 | EIF2B5 |
Catherine Snow Mode of inheritance for gene EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5 |
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| Leukodystrophy, adult onset v0.15 | EIF2B4 |
Catherine Snow Mode of inheritance for gene EIF2B4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4 |
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| Leukodystrophy, adult onset v0.15 | EIF2B3 |
Catherine Snow Mode of inheritance for gene EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3 |
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| Leukodystrophy, adult onset v0.15 | EIF2B2 |
Catherine Snow Mode of inheritance for gene EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 for gene: EIF2B2 |
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| Leukodystrophy, adult onset v0.15 | EIF2B1 |
Catherine Snow Mode of inheritance for gene EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1 |
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| Leukodystrophy, adult onset v0.15 | EARS2 |
Catherine Snow Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2 |
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| Leukodystrophy, adult onset v0.15 | DARS2 |
Catherine Snow Mode of inheritance for gene DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2 |
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| Leukodystrophy, adult onset v0.15 | DARS |
Catherine Snow Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS |
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| Leukodystrophy, adult onset v0.15 | CYP27A1 |
Catherine Snow Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1 |
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| Leukodystrophy, adult onset v0.15 | CTSA |
Catherine Snow Mode of inheritance for gene CTSA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Galactosialidosis, 256540 for gene: CTSA |
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| Leukodystrophy, adult onset v0.15 | CTC1 |
Catherine Snow Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1 |
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| Leukodystrophy, adult onset v0.15 | CSF1R |
Catherine Snow Mode of inheritance for gene CSF1R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 for gene: CSF1R |
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| Leukodystrophy, adult onset v0.15 | COL4A2 |
Catherine Snow Mode of inheritance for gene COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brain small vessel disease 2, 614483 for gene: COL4A2 |
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| Leukodystrophy, adult onset v0.15 | COL4A1 |
Catherine Snow Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780 for gene: COL4A1 |
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| Leukodystrophy, adult onset v0.15 | CLCN2 |
Catherine Snow Mode of inheritance for gene CLCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2 |
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| Leukodystrophy, adult onset v0.15 | ARSA |
Catherine Snow Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA |
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| Leukodystrophy, adult onset v0.15 | ALDH3A2 |
Catherine Snow Mode of inheritance for gene ALDH3A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2 |
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| Leukodystrophy, adult onset v0.15 | ADAR |
Catherine Snow Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR |
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| Leukodystrophy, adult onset v0.15 | ABCD1 |
Catherine Snow Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 for gene: ABCD1 |
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| Leukodystrophy, adult onset v0.15 | AARS2 |
Catherine Snow Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2 |
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| Leukodystrophy, adult onset v0.15 | AARS |
Catherine Snow Mode of inheritance for gene AARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 for gene: AARS |
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| Leukodystrophy, adult onset v0.14 | ZFYVE26 | Catherine Snow reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | TYROBP | Catherine Snow reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | TUBB4A | Catherine Snow reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | TREX1 | Catherine Snow reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | TREM2 | Catherine Snow reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | SPG11 | Catherine Snow reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | SAMHD1 | Catherine Snow reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RPS6KA3 | Catherine Snow reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Lowry syndrome, 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RNF216 | Catherine Snow reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RNASET2 | Catherine Snow reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly, 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RNASEH2C | Catherine Snow reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 3, 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RNASEH2B | Catherine Snow reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | RNASEH2A | Catherine Snow reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PTEN | Catherine Snow reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PSAP | Catherine Snow reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | POLR3B | Catherine Snow reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | POLR3A | Catherine Snow reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | POLR1C | Catherine Snow reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PLP1 | Catherine Snow reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pelizaeus-Merzbacher disease, 312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX7 | Catherine Snow reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX6 | Catherine Snow reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX5 | Catherine Snow reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), 214110, Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX3 | Catherine Snow reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 10B, 617370, Peroxisome biogenesis disorder 10A (Zellweger), 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX26 | Catherine Snow reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), 614872, Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX2 | Catherine Snow reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX19 | Catherine Snow reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX16 | Catherine Snow reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX14 | Catherine Snow reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX13 | Catherine Snow reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), 614883, Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX12 | Catherine Snow reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A, 614859, Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX11B | Catherine Snow reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX10 | Catherine Snow reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PEX1 | Catherine Snow reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | PAH | Catherine Snow reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | OCRL | Catherine Snow reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | NOTCH3 | Catherine Snow reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | MTHFR | Catherine Snow reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | MCOLN1 | Catherine Snow reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV, 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | MARS | Catherine Snow reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | LMNB1 | Catherine Snow reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, 169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | L2HGDH | Catherine Snow reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | KIF5A | Catherine Snow reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditaryspastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | HTRA1 | Catherine Snow reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | HMGCL | Catherine Snow reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | HEXA | Catherine Snow reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | HEPACAM | Catherine Snow reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GLB1 | Catherine Snow reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: white matter abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GLA | Catherine Snow reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, Fabry disease, cardiac variant, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GJC2 | Catherine Snow reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GJB1 | Catherine Snow reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GJA1 | Catherine Snow reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GFAP | Catherine Snow reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GBE1 | Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyglucosan body disease, adult form, 263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | GALC | Catherine Snow reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EIF2B5 | Catherine Snow reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EIF2B4 | Catherine Snow reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EIF2B3 | Catherine Snow reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EIF2B2 | Catherine Snow reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EIF2B1 | Catherine Snow reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | EARS2 | Catherine Snow reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | DARS2 | Catherine Snow reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | DARS | Catherine Snow reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | CYP27A1 | Catherine Snow reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | CTSA | Catherine Snow reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis, 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | CTC1 | Catherine Snow reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | CSF1R | Catherine Snow reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | COL4A2 | Catherine Snow reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain small vessel disease 2, 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | COL4A1 | Catherine Snow reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | CLCN2 | Catherine Snow reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | ARSA | Catherine Snow reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy, 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | ALDH3A2 | Catherine Snow reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Sjogren-Larsson syndrome, 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | ADAR | Catherine Snow reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | ABCD1 | Catherine Snow reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | AARS2 | Catherine Snow reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.14 | AARS | Catherine Snow reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Classified gene: PMM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.97 | PMM2 | Sarah Leigh Gene: pmm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Classified gene: SHANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.95 | HGF | Sarah Leigh Publications for gene: HGF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.94 | MET | Sarah Leigh Publications for gene: MET were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.93 | VEGFC | Sarah Leigh Publications for gene: VEGFC were set to 23410910; 24744435; 14634646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.92 | NSD1 | Sarah Leigh Publications for gene: NSD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.91 | ALG8 | Sarah Leigh Publications for gene: ALG8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.90 | PMM2 | Sarah Leigh Publications for gene: PMM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.89 | CDH7 | Sarah Leigh Publications for gene: CDH7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | HGF | Sahar Mansour reviewed gene: HGF: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | MET | Sahar Mansour reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | ADAMTS3 | Sahar Mansour reviewed gene: ADAMTS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28985353, 30450763; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3 618154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | IKBKG | Sahar Mansour reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | VEGFC | Sahar Mansour reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30071673, 23410910; Phenotypes: Congenital Primary Lymphoedema of Gordon, Lymphatic malformation 4 615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | PIEZO1 | Sahar Mansour reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | EPHB4 | Sahar Mansour reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2 618196, Lymphatic malformation 7 617300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | NSD1 | Sarah Leigh reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: ; Publications: 9781911; Phenotypes: Sotos syndrome 1 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | RASA1 | Sarah Leigh reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | ALG8 | Sarah Leigh reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: ; Publications: 12480927, 15235028; Phenotypes: Congenital disorder of glycosylation, type Ih 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | MPI | Sarah Leigh reviewed gene: MPI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | PMM2 | Sarah Leigh reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17158594, 9762608, 15645285, 20638314; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | TSC2 | Sarah Leigh reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | TSC1 | Sarah Leigh reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis 606690, Tuberous sclerosis-1 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | CDH7 | Sarah Leigh reviewed gene: CDH7: Rating: RED; Mode of pathogenicity: ; Publications: 22765916, 24554215; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | SHANK3 | Sarah Leigh reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.975 | KIF2A | Catherine Snow Classified gene: KIF2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.975 | KIF2A | Catherine Snow Gene: kif2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.974 | KIF2A | Catherine Snow commented on gene: KIF2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.87 | MET | Sarah Leigh commented on gene: MET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.87 | HGF | Sarah Leigh commented on gene: HGF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.87 | HGF | Sarah Leigh Mode of inheritance for gene: HGF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.86 | ADAMTS3 | Sarah Leigh changed review comment from: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).; to: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. At lease three variants in two cases, together with supportive functional studies (PMID 30450763). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.86 | ADAMTS3 | Sarah Leigh Publications for gene: ADAMTS3 were set to 28985353; 28687807; 26446156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.85 | ADAMTS3 | Sarah Leigh Tag watchlist was removed from gene: ADAMTS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.85 | ADAMTS3 | Sarah Leigh Classified gene: ADAMTS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.85 | ADAMTS3 | Sarah Leigh Added comment: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.85 | ADAMTS3 | Sarah Leigh Gene: adamts3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.974 | KIF2A | Catherine Snow Phenotypes for gene: KIF2A were changed from Cortical dysplasia, complex, with other brain malformations 3, 615411 to Cortical dysplasia, complex, with other brain malformations 3, 615411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.973 | KIF2A | Catherine Snow Phenotypes for gene: KIF2A were changed from Cortical dysplasia, complex, with other brain malformations 3, 615411 to Cortical dysplasia, complex, with other brain malformations 3, 615411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.973 | KIF2A | Catherine Snow Phenotypes for gene: KIF2A were changed from MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. to Cortical dysplasia, complex, with other brain malformations 3, 615411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | IKBKG | Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported in 3 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | IKBKG | Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported; to: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Added comment: Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Marked gene: TOP3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Classified gene: TOP3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Added comment: Comment on list classification: Update recieved from Carl Fratter on 24th July 2019 on behalf of the NHSE GMS Mitochondrial Specialist Group: After overall review by the GMS mitochondrial specialist test group, this gene was agreed to be Green on this panel, as the Newcastle team are aware of another unrelated case, and it was made Green with agreement from the group on the Possible mitochondrial disorder - nuclear genes gene panel (code 539, version 0.206). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.308 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.308 | ALPL | Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.307 | ACTA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following review from Anna de Burca. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.307 | ACTA1 | Rebecca Foulger Mode of inheritance for gene: ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.97 | GIGYF2 | Louise Daugherty Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.96 | GIGYF2 | Louise Daugherty Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.95 | GCDH | Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.94 | GCDH | Louise Daugherty Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.93 | HTRA1 | Louise Daugherty Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.92 | HTRA1 | Louise Daugherty Phenotypes for gene: HTRA1 were changed from Dementia to Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.91 | BCAP31 | Louise Daugherty Mode of inheritance for gene: BCAP31 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.90 | TREM2 | Louise Daugherty Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.89 | SLC20A2 | Louise Daugherty Phenotypes for gene: SLC20A2 were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 1, 158378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.88 | SLC20A2 | Louise Daugherty Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.87 | PDGFRB | Louise Daugherty Phenotypes for gene: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.86 | PDGFRB | Louise Daugherty Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.85 | KIAA1161 | Louise Daugherty Phenotypes for gene: KIAA1161 were changed from to Autosomal Recessive Primary Familial Brain Calcification | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.84 | KIAA1161 | Louise Daugherty Mode of inheritance for gene: KIAA1161 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.83 | CCNF | Louise Daugherty Phenotypes for gene: CCNF were changed from to Frontotemporal dementia / amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.82 | CCNF | Louise Daugherty Mode of inheritance for gene: CCNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | XPR1 | Louise Daugherty Publications for gene XPR1 were changed from to 26231937; 25938945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | WDR45 | Louise Daugherty Publications for gene WDR45 were changed from to 23176820; 23435086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | VRK1 | Louise Daugherty Publications for gene VRK1 were changed from to 26583493 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | VCP | Louise Daugherty Publications for gene VCP were changed from 26511028; 25618255; 27178390; 25457024; 23881933; 25492614 to 26511028; 23498975; 27178390; 25492614; 21145000; 23881933; 25618255; 25457024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | VAPB | Louise Daugherty Publications for gene VAPB were changed from to 18555774; 15372378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | UBQLN2 | Louise Daugherty Publications for gene UBQLN2 were changed from to 23541532; 21857683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TYROBP | Louise Daugherty Publications for gene TYROBP were changed from 15049507 to 12370476; 15049507; 10888890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TWNK | Louise Daugherty Publications for gene TWNK were changed from to 19513767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TUBB4A | Louise Daugherty Publications for gene TUBB4A were changed from PMID: 25497598; 27809427 to 25374358; 27809427; 25497598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TTC19 | Louise Daugherty Publications for gene TTC19 were changed from to 23532514; 21278747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TREM2 | Louise Daugherty Publications for gene TREM2 were changed from to 23318515; 15883308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TMEM240 | Louise Daugherty Publications for gene TMEM240 were changed from to 25070513; 18418688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TARDBP | Louise Daugherty Publications for gene TARDBP were changed from 23881933; 20697052 to 23881933; 19379745; 20697052; 18372902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | TAF1 | Louise Daugherty Publications for gene TAF1 were changed from PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 to 11714101; 20301662; 26769797; 2368812; 12928496; 26637982; 17273961; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17668393; 23184149; 26879577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SYNE1 | Louise Daugherty Publications for gene SYNE1 were changed from to 27197992; 25681989; 27086870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | STUB1 | Louise Daugherty Publications for gene STUB1 were changed from to 25592071; 30381368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SQSTM1 | Louise Daugherty Publications for gene SQSTM1 were changed from to 22084127; 22972638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SPG21 | Louise Daugherty Publications for gene SPG21 were changed from Simpson et al. (2003) to 14564668; 28752238; 24451228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SPG11 | Louise Daugherty Publications for gene SPG11 were changed from 19224311; 27820618; Stevanin et al. (2007); 21381113 to 21381113; 22554690; 19224311; 18067136; 27820618) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SPAST | Louise Daugherty Publications for gene SPAST were changed from Hazan et al (1999) to 25700176; 16240363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SOD1 | Louise Daugherty Publications for gene SOD1 were changed from 23687121 to 23687121; 24501761; 25439728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SNCB | Louise Daugherty Publications for gene SNCB were changed from to 15365127; 21045828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SLC6A3 | Louise Daugherty Publications for gene SLC6A3 were changed from PMID: 24613933 to 24613933; 21777827; 19478460 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SLC39A14 | Louise Daugherty Publications for gene SLC39A14 were changed from to 27231142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SLC30A10 | Louise Daugherty Publications for gene SLC30A10 were changed from 25778823; 22341972; 22934317; 22926781; 22341971 to 22926781; 22341972; 22934317; 30272946; 22341971; 25778823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SLC20A2 | Louise Daugherty Publications for gene SLC20A2 were changed from to 24065723; 24135862 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SIGMAR1 | Louise Daugherty Publications for gene SIGMAR1 were changed from PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls to 26088964; 26078401; 21031579; 26088963; 21842496; 27821430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SGCE | Louise Daugherty Publications for gene SGCE were changed from 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 to 12325078; 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23332219; 22626943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | SETX | Louise Daugherty Publications for gene SETX were changed from 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). to 15106121; 23129421; 22577233; 23881933; 21438761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | RNF216 | Louise Daugherty Publications for gene RNF216 were changed from to 11932290; 23656588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | RAB39B | Louise Daugherty Publications for gene RAB39B were changed from 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 to 27066548; 27694831; 26399558; 27459931; 28851564; 2639955; 25434005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PSEN2 | Louise Daugherty Publications for gene PSEN2 were changed from 22503161; 23028126 to 7638622; 23028126; 12925374; 22503161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PSEN1 | Louise Daugherty Publications for gene PSEN1 were changed from 22503161; 23028126 to 16033913; 23028126; 7596406; 22503161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PRNP | Louise Daugherty Publications for gene PRNP were changed from 20583301; 26791950 to 20583301; 10953183; 26791950; 16831973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PRKRA | Louise Daugherty Publications for gene PRKRA were changed from 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 to 24142417; 25737287 26990861; 18420150.; 25914261; 25737287; 18243799; 26990861; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; 22842711; 25142429 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PRKN | Louise Daugherty Publications for gene PRKN were changed from PMID: 22956510 to 22956510; 12056932; 9560156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PRKCG | Louise Daugherty Publications for gene PRKCG were changed from to 29603387; 12644968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PNPLA6 | Louise Daugherty Publications for gene PNPLA6 were changed from Rainier et al. (2008) to 24355708; 18313024; 29749493 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PLA2G6 | Louise Daugherty Publications for gene PLA2G6 were changed from to 16783378; 18799783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PINK1 | Louise Daugherty Publications for gene PINK1 were changed from 15087508 to 15087508; 15349870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PFN1 | Louise Daugherty Publications for gene PFN1 were changed from to 24920614; 22801503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PDYN | Louise Daugherty Publications for gene PDYN were changed from to 15306549; 21035104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PDGFRB | Louise Daugherty Publications for gene PDGFRB were changed from to 24065723; 24796542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PDGFB | Louise Daugherty Publications for gene PDGFB were changed from to 29955172; 23913003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PARK7 | Louise Daugherty Publications for gene PARK7 were changed from to 11462174; 12446870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | PANK2 | Louise Daugherty Publications for gene PANK2 were changed from to 15911822; 11479594 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | OPTN | Louise Daugherty Publications for gene OPTN were changed from 20428114 to 26303227; 26203661; 25943890; 25859013; 23889540; 20428114; 25681989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | NR4A2 | Louise Daugherty Publications for gene NR4A2 were changed from 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 to 24126627; 15390059; 15184637; 25543265; 27012974; 19429166; 15276233; 12827450; 28385514; 16532445; 12496759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | MARS2 | Louise Daugherty Publications for gene MARS2 were changed from PubMed: 22448145 to 22448145; 16672289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | MAPT | Louise Daugherty Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | LRRK2 | Louise Daugherty Publications for gene LRRK2 were changed from 28395804; 28395803; 25391693; 27090875; 28395805; 28395802 to 7898705; 28395802; 25391693; 27090875; 28395803; 28395805; 28395804; 15541308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | KIF5A | Louise Daugherty Publications for gene KIF5A were changed from Reid et al. (2002) to 29954873; 29566793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | KIAA1161 | Louise Daugherty Publications for gene KIAA1161 were changed from to 30656188; 29910000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | KCNC3 | Louise Daugherty Publications for gene KCNC3 were changed from to 16501573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ITM2B | Louise Daugherty Publications for gene ITM2B were changed from to 29525180; 10391242 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HTRA1 | Louise Daugherty Publications for gene HTRA1 were changed from to 19387015; 24500651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HSPD1 | Louise Daugherty Publications for gene HSPD1 were changed from Hansen et al. (2002) to 18571143; 11898127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HNRNPA1 | Louise Daugherty Publications for gene HNRNPA1 were changed from to 23455423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HFE | Louise Daugherty Publications for gene HFE were changed from to 17828789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HEXB | Louise Daugherty Publications for gene HEXB were changed from to 20798201; 24263030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | HEXA | Louise Daugherty Publications for gene HEXA were changed from to 28739864; 27033294 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | GFAP | Louise Daugherty Publications for gene GFAP were changed from to 26023202; 29095329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | GCH1 | Louise Daugherty Publications for gene GCH1 were changed from 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | GCDH | Louise Daugherty Publications for gene GCDH were changed from to 23884036; 26316201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | GBA | Louise Daugherty Publications for gene GBA were changed from 29400127; 27779773; 27632223; 27648471; 27717005 to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FUS | Louise Daugherty Publications for gene FUS were changed from to 19251627; 19251628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FOLR1 | Louise Daugherty Publications for gene FOLR1 were changed from to 11438811; 12746423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FMR1 | Louise Daugherty Publications for gene FMR1 were changed from to 28176767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FIG4 | Louise Daugherty Publications for gene FIG4 were changed from PMID: 19118816 to 19118816; 23888880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FGF14 | Louise Daugherty Publications for gene FGF14 were changed from to 16211615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | FBXO7 | Louise Daugherty Publications for gene FBXO7 were changed from to 18513678; 19038853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ERCC6 | Louise Daugherty Publications for gene ERCC6 were changed from to 18185538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ERBB4 | Louise Daugherty Publications for gene ERBB4 were changed from to 24119685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ELOVL5 | Louise Daugherty Publications for gene ELOVL5 were changed from to 25065913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ELOVL4 | Louise Daugherty Publications for gene ELOVL4 were changed from 24566826; 26010696 to 5048218; 26010696; 24566826 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF4G1 | Louise Daugherty Publications for gene EIF4G1 were changed from to 21907011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF2B5 | Louise Daugherty Publications for gene EIF2B5 were changed from to 11835386; 11704758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF2B4 | Louise Daugherty Publications for gene EIF2B4 were changed from to 11835386; 11704758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF2B3 | Louise Daugherty Publications for gene EIF2B3 were changed from to 11835386; 11704758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF2B2 | Louise Daugherty Publications for gene EIF2B2 were changed from to 11835386; 11704758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | EIF2B1 | Louise Daugherty Publications for gene EIF2B1 were changed from to 11835386; 11704758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | DNMT1 | Louise Daugherty Publications for gene DNMT1 were changed from 23365052 to 23365052; 8747854; 22328086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | DNAJC6 | Louise Daugherty Publications for gene DNAJC6 were changed from 22563501; 26528954; 23211418; 26703368; 27687717 to 23211418; 27687717; 26528954; 22563501; 26703368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | DNAJC5 | Louise Daugherty Publications for gene DNAJC5 were changed from 27604308; 21820099 to 21820099; 27604308; 26610600; 22073189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | DCTN1 | Louise Daugherty Publications for gene DCTN1 were changed from 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | DARS2 | Louise Daugherty Publications for gene DARS2 were changed from to 19592391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CSF1R | Louise Daugherty Publications for gene CSF1R were changed from 23787135 to 22197934; 23038421; 23787135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CP | Louise Daugherty Publications for gene CP were changed from to 7708681; 3574673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | COQ8A | Louise Daugherty Publications for gene COQ8A were changed from to 24048965; 29915382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | COASY | Louise Daugherty Publications for gene COASY were changed from 27021474 to 27021474; 28489334; 24360804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CLN6 | Louise Daugherty Publications for gene CLN6 were changed from to 26115733; 30561534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CHMP2B | Louise Daugherty Publications for gene CHMP2B were changed from 20352044 to 16041373; 20352044; 17956895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CHCHD2 | Louise Daugherty Publications for gene CHCHD2 were changed from 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114 to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CHCHD10 | Louise Daugherty Publications for gene CHCHD10 were changed from 30014597; 25113787; 24934289 to 25113787; 30014597; 27810918; 25576308; 24934289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CCDC88C | Louise Daugherty Publications for gene CCDC88C were changed from PMID: 25062847 to 25062847; 30398676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | CACNA1G | Louise Daugherty Publications for gene CACNA1G were changed from to 26715324; 26456284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | C19orf12 | Louise Daugherty Publications for gene C19orf12 were changed from Landoure (2013) to 23278385; Landoure (2013) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | AUH | Louise Daugherty Publications for gene AUH were changed from to 20855850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ATP7B | Louise Daugherty Publications for gene ATP7B were changed from 20301685 to 29213604; 20301685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ATP1A3 | Louise Daugherty Publications for gene ATP1A3 were changed from 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15260953; 22842232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ATP13A2 | Louise Daugherty Publications for gene ATP13A2 were changed from 28137957; 27217339 to 21060012; 16964263; 27217339; 28137957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | APTX | Louise Daugherty Publications for gene APTX were changed from to 14506070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | APP | Louise Daugherty Publications for gene APP were changed from 22503161; 23028126 to 2111584; 23028126; 22503161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ANO10 | Louise Daugherty Publications for gene ANO10 were changed from to 25182700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ANG | Louise Daugherty Publications for gene ANG were changed from PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS to 16501576; 26753798; 17886298; 26255299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ALS2 | Louise Daugherty Publications for gene ALS2 were changed from 12145748; 23881933; 25474699; 24503148 to 23881933; 24503148; 25474699; 12145748; 11586298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | ABHD12 | Louise Daugherty Publications for gene ABHD12 were changed from to 20797687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | SIGMAR1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | SIGMAR1 | Louise Daugherty commented on gene: SIGMAR1: PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions;PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | PRKRA |
Louise Daugherty changed review comment from: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m. Panel Version: 1.74 Edit your comment Delete comment Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Created: 23 Apr 2019, 5:35 p.m.; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m. Panel Version: 1.74 Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Created: 23 Apr 2019, 5:35 p.m. |
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| Neurodegenerative disorders, adult onset v1.80 | PRKRA | Louise Daugherty edited their review of gene: PRKRA: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | PRKRA |
Louise Daugherty changed review comment from: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m. Panel Version: 1.74 Edit your comment Delete comment Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Created: 23 Apr 2019, 5:35 p.m. |
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| Neurodegenerative disorders, adult onset v1.80 | PRKRA | Louise Daugherty commented on gene: PRKRA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | PRKRA | Louise Daugherty Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | PRKRA | Louise Daugherty commented on gene: PRKRA: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.80 | PINK1 | Louise Daugherty Publications for gene: PINK1 were set to Parkinson disease 6, early onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.79 | OPTN | Louise Daugherty commented on gene: OPTN: PMID: 25943890;(iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient;(ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS;PMID: 26203661;PMID: 25859013 - functional evidence;PMID: 25681989;PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS;PMID: 26503823;PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.;and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.79 | OPTN | Louise Daugherty Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.78 | CHMP2B | Louise Daugherty commented on gene: CHMP2B: Comment: - PMID: 20352044 conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.78 | CHMP2B | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.78 | CHMP2B | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.78 | CHMP2B | Louise Daugherty Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.77 | ATXN10_CAG | Louise Daugherty Classified STR: ATXN10_CAG as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.77 | ATXN10_CAG | Louise Daugherty Added comment: Comment on list classification: remove - error in upload | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.77 | ATXN10_CAG | Louise Daugherty Str: atxn10_cag has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.76 | ATXN1_ATTCT | Louise Daugherty Classified STR: ATXN1_ATTCT as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.76 | ATXN1_ATTCT | Louise Daugherty Added comment: Comment on list classification: remove error in upload | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.76 | ATXN1_ATTCT | Louise Daugherty Str: atxn1_attct has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | TBP_CAG | Louise Daugherty edited their review of STR: TBP_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressive; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age at onset 8 to 55 years (mean 40 years) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | JPH3_CTG | Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | HTT_CAG | Louise Daugherty commented on STR: HTT_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | FXN_GAA | Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Neurodegeneration not feature of disease.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | CSTB_CCCCGCCCCGCG | Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | CSTB_CCCCGCCCCGCG | Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | CACNA1A_CAG | Louise Daugherty edited their review of STR: CACNA1A_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age of onset 20-65 years; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN7_CAG | Louise Daugherty edited their review of STR: ATXN7_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN2_CAG | Louise Daugherty commented on STR: ATXN2_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN1_CAG | Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN10_ATTCT | Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | AR_CAG | Louise Daugherty commented on STR: AR_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37468-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37404-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37468-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37478-Gain | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37478-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37404-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37468-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37478-Gain | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ISCA-37478-Loss | Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | TBP_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | PPP2R2B_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | NOP56_GGCCTG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | JPH3_CTG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: JPH3_CTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | HTT_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: HTT_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | FXN_GAA | Louise Daugherty Source Yorkshire and North East GLH was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | CSTB_CCCCGCCCCGCG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | CACNA1A_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | C9orf72_GGGGCC | Louise Daugherty Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN7_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN3_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN2_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | ATXN1_ATTCT |
Louise Daugherty STR: ATXN1_ATTCT was added STR: ATXN1_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for STR: ATXN1_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_ATTCT were set to Spinocerebellar ataxia 1 164400 |
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| Neurodegenerative disorders, adult onset v1.75 | ATXN10_CAG |
Louise Daugherty STR: ATXN10_CAG was added STR: ATXN10_CAG was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for STR: ATXN10_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_CAG were set to Spinocerebellar ataxia 10 603516 |
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| Neurodegenerative disorders, adult onset v1.75 | ATN1_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.75 | AR_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: AR_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ISCA-37478-Loss | Louise Daugherty commented on Region: ISCA-37478-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ISCA-37478-Gain | Louise Daugherty commented on Region: ISCA-37478-Gain: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ISCA-37468-Loss | Louise Daugherty commented on Region: ISCA-37468-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ISCA-37404-Loss | Louise Daugherty commented on Region: ISCA-37404-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.972 | KIF2A | Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.971 | KIF2A | Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.971 | KIF2A | Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | HGF |
Sarah Leigh gene: HGF was added gene: HGF was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: HGF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Primary lymphoedema v1.83 | MET |
Sarah Leigh gene: MET was added gene: MET was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Primary lymphoedema v1.83 | ADAMTS3 | Sarah Leigh Source Expert list was added to ADAMTS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | IKBKG | Sarah Leigh Source Expert list was added to IKBKG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | VEGFC | Sarah Leigh Mode of inheritance for gene VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | PIEZO1 | Sarah Leigh Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | EPHB4 | Sarah Leigh Mode of inheritance for gene EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | NSD1 |
Sarah Leigh gene: NSD1 was added gene: NSD1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Primary lymphoedema v1.83 | RASA1 |
Sarah Leigh gene: RASA1 was added gene: RASA1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Primary lymphoedema v1.83 | ALG8 |
Sarah Leigh gene: ALG8 was added gene: ALG8 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Primary lymphoedema v1.83 | MPI |
Sarah Leigh gene: MPI was added gene: MPI was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal |
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| Primary lymphoedema v1.83 | PMM2 |
Sarah Leigh gene: PMM2 was added gene: PMM2 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Primary lymphoedema v1.83 | TSC2 |
Sarah Leigh gene: TSC2 was added gene: TSC2 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Primary lymphoedema v1.83 | TSC1 |
Sarah Leigh gene: TSC1 was added gene: TSC1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Primary lymphoedema v1.83 | CDH7 |
Sarah Leigh gene: CDH7 was added gene: CDH7 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: CDH7 was set to |
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| Primary lymphoedema v1.83 | SHANK3 |
Sarah Leigh gene: SHANK3 was added gene: SHANK3 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Neurodegenerative disorders, adult onset v1.74 | VPS13C | Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DNAJC13 | Louise Daugherty reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | COQ2 | Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TUBA4A | Louise Daugherty reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TAF15 | Louise Daugherty reviewed gene: TAF15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRPH | Louise Daugherty reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NEK1 | Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MATR3 | Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HNRNPA2B1 | Louise Daugherty reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EWSR1 | Louise Daugherty reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DAO | Louise Daugherty reviewed gene: DAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARHGEF28 | Louise Daugherty reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ANXA11 | Louise Daugherty reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SS18L1 | Louise Daugherty reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ZFYVE26 | Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | YY1 | Louise Daugherty commented on gene: YY1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | XPR1 | Louise Daugherty commented on gene: XPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WWOX | Louise Daugherty commented on gene: WWOX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WFS1 | Louise Daugherty commented on gene: WFS1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WDR81 | Louise Daugherty commented on gene: WDR81: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WDR73 | Louise Daugherty commented on gene: WDR73: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WDR45B | Louise Daugherty commented on gene: WDR45B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WDR45 | Louise Daugherty commented on gene: WDR45: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | WASHC5 | Louise Daugherty commented on gene: WASHC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VRK1 | Louise Daugherty commented on gene: VRK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VPS53 | Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VPS35 | Louise Daugherty commented on gene: VPS35: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VPS13D | Louise Daugherty commented on gene: VPS13D: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VPS13A | Louise Daugherty commented on gene: VPS13A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VLDLR | Louise Daugherty commented on gene: VLDLR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VCP | Louise Daugherty commented on gene: VCP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VAPB | Louise Daugherty commented on gene: VAPB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | VAC14 | Louise Daugherty commented on gene: VAC14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | UBQLN2 | Louise Daugherty commented on gene: UBQLN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TYROBP | Louise Daugherty commented on gene: TYROBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TWNK | Louise Daugherty commented on gene: TWNK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TUBB4A | Louise Daugherty commented on gene: TUBB4A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TTPA | Louise Daugherty commented on gene: TTPA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TTC19 | Louise Daugherty commented on gene: TTC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TTBK2 | Louise Daugherty commented on gene: TTBK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TSEN54 | Louise Daugherty commented on gene: TSEN54: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TSEN2 | Louise Daugherty commented on gene: TSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TREM2 | Louise Daugherty commented on gene: TREM2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TPP1 | Louise Daugherty commented on gene: TPP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TOR1A | Louise Daugherty commented on gene: TOR1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TMEM240 | Louise Daugherty commented on gene: TMEM240: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | THAP1 | Louise Daugherty commented on gene: THAP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TH | Louise Daugherty commented on gene: TH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TGM6 | Louise Daugherty commented on gene: TGM6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TBP | Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TBK1 | Louise Daugherty commented on gene: TBK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TARDBP | Louise Daugherty commented on gene: TARDBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | TAF1 | Louise Daugherty commented on gene: TAF1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SYNJ1 | Louise Daugherty commented on gene: SYNJ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SYNE1 | Louise Daugherty commented on gene: SYNE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | STUB1 | Louise Daugherty commented on gene: STUB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SRD5A3 | Louise Daugherty commented on gene: SRD5A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SQSTM1 | Louise Daugherty commented on gene: SQSTM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPTBN2 | Louise Daugherty commented on gene: SPTBN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPR | Louise Daugherty commented on gene: SPR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPG7 | Louise Daugherty commented on gene: SPG7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPG21 | Louise Daugherty commented on gene: SPG21: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPG11 | Louise Daugherty commented on gene: SPG11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPAST | Louise Daugherty commented on gene: SPAST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SPART | Louise Daugherty commented on gene: SPART: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SOD1 | Louise Daugherty commented on gene: SOD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SNX14 | Louise Daugherty commented on gene: SNX14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SNCB | Louise Daugherty reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SNCA | Louise Daugherty commented on gene: SNCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC9A6 | Louise Daugherty commented on gene: SLC9A6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC6A5 | Louise Daugherty commented on gene: SLC6A5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC6A3 | Louise Daugherty commented on gene: SLC6A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC52A3 | Louise Daugherty commented on gene: SLC52A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC52A2 | Louise Daugherty commented on gene: SLC52A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC39A14 | Louise Daugherty commented on gene: SLC39A14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC30A10 | Louise Daugherty commented on gene: SLC30A10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC2A1 | Louise Daugherty commented on gene: SLC2A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC20A2 | Louise Daugherty commented on gene: SLC20A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC1A4 | Louise Daugherty commented on gene: SLC1A4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC1A3 | Louise Daugherty commented on gene: SLC1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SLC16A2 | Louise Daugherty commented on gene: SLC16A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SIL1 | Louise Daugherty commented on gene: SIL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SIGMAR1 | Louise Daugherty commented on gene: SIGMAR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SGCE | Louise Daugherty commented on gene: SGCE: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SETX | Louise Daugherty commented on gene: SETX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SERAC1 | Louise Daugherty commented on gene: SERAC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SEPSECS | Louise Daugherty commented on gene: SEPSECS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SCN8A | Louise Daugherty commented on gene: SCN8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SCN1A | Louise Daugherty commented on gene: SCN1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SAR1B | Louise Daugherty commented on gene: SAR1B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | SACS | Louise Daugherty commented on gene: SACS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RTN2 | Louise Daugherty commented on gene: RTN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RNF216 | Louise Daugherty commented on gene: RNF216: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RNF170 | Louise Daugherty commented on gene: RNF170: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | REEP2 | Louise Daugherty commented on gene: REEP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | REEP1 | Louise Daugherty commented on gene: REEP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RARS2 | Louise Daugherty commented on gene: RARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RAB39B | Louise Daugherty commented on gene: RAB39B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PSEN2 | Louise Daugherty commented on gene: PSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PSEN1 | Louise Daugherty commented on gene: PSEN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRRT2 | Louise Daugherty commented on gene: PRRT2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRNP | Louise Daugherty commented on gene: PRNP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRKRA | Louise Daugherty commented on gene: PRKRA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRKN | Louise Daugherty commented on gene: PRKN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PRKCG | Louise Daugherty commented on gene: PRKCG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PPP2R2B | Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | POLR3A | Louise Daugherty commented on gene: POLR3A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | POLG | Louise Daugherty commented on gene: POLG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PNPLA6 | Louise Daugherty commented on gene: PNPLA6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PNKP | Louise Daugherty commented on gene: PNKP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PNKD | Louise Daugherty commented on gene: PNKD: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PMPCA | Louise Daugherty commented on gene: PMPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PLP1 | Louise Daugherty commented on gene: PLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PLA2G6 | Louise Daugherty commented on gene: PLA2G6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PINK1 | Louise Daugherty commented on gene: PINK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PFN1 | Louise Daugherty commented on gene: PFN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PEX16 | Louise Daugherty commented on gene: PEX16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PDYN | Louise Daugherty commented on gene: PDYN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PDGFRB | Louise Daugherty commented on gene: PDGFRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PDGFB | Louise Daugherty commented on gene: PDGFB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PAX6 | Louise Daugherty commented on gene: PAX6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PARK7 | Louise Daugherty commented on gene: PARK7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | PANK2 | Louise Daugherty commented on gene: PANK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | OPTN | Louise Daugherty commented on gene: OPTN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | OPHN1 | Louise Daugherty commented on gene: OPHN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | OPA3 | Louise Daugherty commented on gene: OPA3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NT5C2 | Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NR4A2 | Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NPC2 | Louise Daugherty commented on gene: NPC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NPC1 | Louise Daugherty commented on gene: NPC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NOTCH3 | Louise Daugherty commented on gene: NOTCH3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NOP56 | Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NKX6-2 | Louise Daugherty commented on gene: NKX6-2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NKX2-1 | Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NIPA1 | Louise Daugherty commented on gene: NIPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NHLRC1 | Louise Daugherty commented on gene: NHLRC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NEFH | Louise Daugherty commented on gene: NEFH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NDUFA12 | Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | NAGLU | Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MVK | Louise Daugherty commented on gene: MVK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MTTP | Louise Daugherty commented on gene: MTTP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MTPAP | Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MT-ND6 | Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MT-ATP6 | Louise Daugherty commented on gene: MT-ATP6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MRE11 | Louise Daugherty commented on gene: MRE11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MR1 | Louise Daugherty commented on gene: MR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MPV17 | Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MMADHC | Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MMACHC | Louise Daugherty commented on gene: MMACHC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MECR | Louise Daugherty commented on gene: MECR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MCOLN1 | Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MAT1A | Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MARS2 | Louise Daugherty commented on gene: MARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MARS | Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MAPT | Louise Daugherty commented on gene: MAPT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MAG | Louise Daugherty commented on gene: MAG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | LYST | Louise Daugherty commented on gene: LYST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | LRRK2 | Louise Daugherty commented on gene: LRRK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | L2HGDH | Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | L1CAM | Louise Daugherty commented on gene: L1CAM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KMT2B | Louise Daugherty commented on gene: KMT2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KLC4 | Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KIF5A | Louise Daugherty commented on gene: KIF5A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KIF1C | Louise Daugherty commented on gene: KIF1C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KIF1A | Louise Daugherty commented on gene: KIF1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KIDINS220 | Louise Daugherty commented on gene: KIDINS220: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KIAA1161 | Louise Daugherty commented on gene: KIAA1161: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KDM5C | Louise Daugherty commented on gene: KDM5C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNQ3 | Louise Daugherty commented on gene: KCNQ3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNQ2 | Louise Daugherty commented on gene: KCNQ2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNK18 | Louise Daugherty commented on gene: KCNK18: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNJ10 | Louise Daugherty commented on gene: KCNJ10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCND3 | Louise Daugherty commented on gene: KCND3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNC3 | Louise Daugherty commented on gene: KCNC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | KCNA1 | Louise Daugherty commented on gene: KCNA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | JPH3 | Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ITPR1 | Louise Daugherty commented on gene: ITPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ITM2B | Louise Daugherty commented on gene: ITM2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | IPPK | Louise Daugherty commented on gene: IPPK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | IBA57 | Louise Daugherty commented on gene: IBA57: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HTT | Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HTRA2 | Louise Daugherty commented on gene: HTRA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HTRA1 | Louise Daugherty commented on gene: HTRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HSPD1 | Louise Daugherty commented on gene: HSPD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HPRT1 | Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HPCA | Louise Daugherty commented on gene: HPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HNRNPA1 | Louise Daugherty commented on gene: HNRNPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HFE | Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HEXB | Louise Daugherty commented on gene: HEXB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HEXA | Louise Daugherty commented on gene: HEXA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | HACE1 | Louise Daugherty commented on gene: HACE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GRN | Louise Daugherty commented on gene: GRN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GRM1 | Louise Daugherty commented on gene: GRM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GRID2 | Louise Daugherty commented on gene: GRID2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GPAA1 | Louise Daugherty commented on gene: GPAA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GOSR2 | Louise Daugherty commented on gene: GOSR2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GNAO1 | Louise Daugherty commented on gene: GNAO1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GNAL | Louise Daugherty commented on gene: GNAL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GLRB | Louise Daugherty commented on gene: GLRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GLRA1 | Louise Daugherty commented on gene: GLRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GJC2 | Louise Daugherty commented on gene: GJC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GIGYF2 | Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GFAP | Louise Daugherty commented on gene: GFAP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GCH1 | Louise Daugherty commented on gene: GCH1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GCDH | Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GBA2 | Louise Daugherty commented on gene: GBA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GBA | Louise Daugherty commented on gene: GBA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GAMT | Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | GAD1 | Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FXN | Louise Daugherty commented on gene: FXN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FUS | Louise Daugherty commented on gene: FUS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FTL | Louise Daugherty commented on gene: FTL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FOXRED1 | Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FOXG1 | Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FOLR1 | Louise Daugherty commented on gene: FOLR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FMR1 | Louise Daugherty commented on gene: FMR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FLVCR1 | Louise Daugherty commented on gene: FLVCR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FIG4 | Louise Daugherty commented on gene: FIG4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FGF14 | Louise Daugherty commented on gene: FGF14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FBXO7 | Louise Daugherty commented on gene: FBXO7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FASTKD2 | Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FARS2 | Louise Daugherty commented on gene: FARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | FA2H | Louise Daugherty commented on gene: FA2H: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EXOSC3 | Louise Daugherty commented on gene: EXOSC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ERLIN2 | Louise Daugherty commented on gene: ERLIN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ERLIN1 | Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ERCC6 | Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ERBB4 | Louise Daugherty reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EPM2A | Louise Daugherty commented on gene: EPM2A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ENTPD1 | Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ELOVL5 | Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ELOVL4 | Louise Daugherty commented on gene: ELOVL4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF4G1 | Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF2B5 | Louise Daugherty commented on gene: EIF2B5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF2B4 | Louise Daugherty commented on gene: EIF2B4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF2B3 | Louise Daugherty commented on gene: EIF2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF2B2 | Louise Daugherty commented on gene: EIF2B2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EIF2B1 | Louise Daugherty commented on gene: EIF2B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | EARS2 | Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DYNC1H1 | Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DSTYK | Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DRD5 | Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DRD2 | Louise Daugherty commented on gene: DRD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DNMT1 | Louise Daugherty commented on gene: DNMT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DNAJC6 | Louise Daugherty commented on gene: DNAJC6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DNAJC5 | Louise Daugherty commented on gene: DNAJC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DNAJC19 | Louise Daugherty commented on gene: DNAJC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DMXL2 | Louise Daugherty commented on gene: DMXL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DLAT | Louise Daugherty commented on gene: DLAT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DDHD2 | Louise Daugherty commented on gene: DDHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DDHD1 | Louise Daugherty commented on gene: DDHD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DDC | Louise Daugherty commented on gene: DDC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DCTN1 | Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DCAF17 | Louise Daugherty commented on gene: DCAF17: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DARS2 | Louise Daugherty commented on gene: DARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DARS | Louise Daugherty commented on gene: DARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | DAB1 | Louise Daugherty commented on gene: DAB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CYP7B1 | Louise Daugherty commented on gene: CYP7B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CYP2U1 | Louise Daugherty commented on gene: CYP2U1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CYP27A1 | Louise Daugherty commented on gene: CYP27A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CWF19L1 | Louise Daugherty commented on gene: CWF19L1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CSTB | Louise Daugherty commented on gene: CSTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CSF1R | Louise Daugherty commented on gene: CSF1R: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CP | Louise Daugherty commented on gene: CP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | COX20 | Louise Daugherty commented on gene: COX20: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | COQ8A | Louise Daugherty commented on gene: COQ8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | COG5 | Louise Daugherty commented on gene: COG5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | COASY | Louise Daugherty commented on gene: COASY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CLP1 | Louise Daugherty commented on gene: CLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CLN6 | Louise Daugherty commented on gene: CLN6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CLCN2 | Louise Daugherty commented on gene: CLCN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CIZ1 | Louise Daugherty commented on gene: CIZ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CHMP2B | Louise Daugherty commented on gene: CHMP2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CHMP1A | Louise Daugherty commented on gene: CHMP1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CHCHD2 | Louise Daugherty commented on gene: CHCHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CHCHD10 | Louise Daugherty commented on gene: CHCHD10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CDK16 | Louise Daugherty commented on gene: CDK16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CCT5 | Louise Daugherty commented on gene: CCT5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CCNF | Louise Daugherty commented on gene: CCNF: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CCDC88C | Louise Daugherty commented on gene: CCDC88C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CASK | Louise Daugherty commented on gene: CASK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CAPN1 | Louise Daugherty commented on gene: CAPN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CAMTA1 | Louise Daugherty commented on gene: CAMTA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CACNB4 | Louise Daugherty commented on gene: CACNB4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CACNA1G | Louise Daugherty commented on gene: CACNA1G: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CACNA1A | Louise Daugherty commented on gene: CACNA1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | CA8 | Louise Daugherty commented on gene: CA8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | C9orf72 | Louise Daugherty commented on gene: C9orf72: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | C19orf12 | Louise Daugherty commented on gene: C19orf12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | C12orf65 | Louise Daugherty commented on gene: C12orf65: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | BSCL2 | Louise Daugherty commented on gene: BSCL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | BEAN1 | Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | BCAP31 | Louise Daugherty commented on gene: BCAP31: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | B4GALNT1 | Louise Daugherty commented on gene: B4GALNT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AUH | Louise Daugherty commented on gene: AUH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN8 | Louise Daugherty commented on gene: ATXN8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN7 | Louise Daugherty commented on gene: ATXN7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN3 | Louise Daugherty commented on gene: ATXN3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN2 | Louise Daugherty commented on gene: ATXN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN10 | Louise Daugherty commented on gene: ATXN10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATXN1 | Louise Daugherty commented on gene: ATXN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP8A2 | Louise Daugherty commented on gene: ATP8A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP7B | Louise Daugherty commented on gene: ATP7B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP6AP2 | Louise Daugherty commented on gene: ATP6AP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP2B3 | Louise Daugherty commented on gene: ATP2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP1A3 | Louise Daugherty commented on gene: ATP1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP1A2 | Louise Daugherty commented on gene: ATP1A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATP13A2 | Louise Daugherty commented on gene: ATP13A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATN1 | Louise Daugherty commented on gene: ATN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATM | Louise Daugherty commented on gene: ATM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATL1 | Louise Daugherty commented on gene: ATL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ATCAY | Louise Daugherty commented on gene: ATCAY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARX | Louise Daugherty commented on gene: ARX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARSI | Louise Daugherty commented on gene: ARSI: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARSA | Louise Daugherty commented on gene: ARSA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARL6IP1 | Louise Daugherty commented on gene: ARL6IP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ARG1 | Louise Daugherty commented on gene: ARG1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AR | Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | APTX | Louise Daugherty commented on gene: APTX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | APP | Louise Daugherty commented on gene: APP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP5Z1 | Louise Daugherty commented on gene: AP5Z1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP4S1 | Louise Daugherty commented on gene: AP4S1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP4M1 | Louise Daugherty commented on gene: AP4M1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP4E1 | Louise Daugherty commented on gene: AP4E1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP4B1 | Louise Daugherty commented on gene: AP4B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AP1S2 | Louise Daugherty commented on gene: AP1S2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ANO3 | Louise Daugherty commented on gene: ANO3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ANO10 | Louise Daugherty commented on gene: ANO10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ANG | Louise Daugherty commented on gene: ANG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AMPD2 | Louise Daugherty commented on gene: AMPD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ALS2 | Louise Daugherty commented on gene: ALS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ALDH18A1 | Louise Daugherty commented on gene: ALDH18A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ALAS2 | Louise Daugherty commented on gene: ALAS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AIMP1 | Louise Daugherty commented on gene: AIMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AFG3L2 | Louise Daugherty commented on gene: AFG3L2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ADCY5 | Louise Daugherty commented on gene: ADCY5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ADAR | Louise Daugherty commented on gene: ADAR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ACTB | Louise Daugherty commented on gene: ACTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ABHD12 | Louise Daugherty commented on gene: ABHD12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ABCD1 | Louise Daugherty commented on gene: ABCD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | ABCB7 | Louise Daugherty commented on gene: ABCB7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AARS | Louise Daugherty commented on gene: AARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | AAAS | Louise Daugherty commented on gene: AAAS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.970 | CYP27A1 | Catherine Snow reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.73 | VPS13C | Louise Daugherty Phenotypes for gene: VPS13C were changed from 616840; Parkinson disease 23, autosomal recessive, early onset to Parkinson disease 23, autosomal recessive, early onset; 616840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VPS13C | Nick Beauchamp reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: 26942284, 28862745, 28137300; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | DNAJC13 | Nick Beauchamp reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: 24218364, 30537300, 25186792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | COQ2 | Nick Beauchamp reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23758206; Phenotypes: Multiple system atrophy, susceptibility to,146500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TUBA4A | Nick Beauchamp reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: 25374358, 25893256, 28069311; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TAF15 | Nick Beauchamp reviewed gene: TAF15: Rating: GREEN; Mode of pathogenicity: ; Publications: 22065782, 26601740; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | PRPH | Nick Beauchamp reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: 15446584, 25299611, 15322088; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 170710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | NEK1 | Nick Beauchamp reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26945885, 30093141, 29650794; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24, 617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | MATR3 | Nick Beauchamp reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28029397, 26493020, 25771394; Phenotypes: Amyotrophic lateral sclerosis 21; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | HNRNPA2B1 | Nick Beauchamp reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23455423, 27773581, 25299611; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | EWSR1 | Nick Beauchamp reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22454397, 29170628; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | DAO | Nick Beauchamp reviewed gene: DAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 20368421, 29194436; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | ARHGEF28 | Nick Beauchamp reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: 28709720, 27154192, 23286752, 24712971; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | ANXA11 | Nick Beauchamp reviewed gene: ANXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28469040, 29845112, 30337194; Phenotypes: Amytrophic lateral sclerosis 23, 617839; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | SS18L1 | Nick Beauchamp reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708140, 24360741; Phenotypes: Amyotrophic lateral sclerosis, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | ZFYVE26 | Nick Beauchamp reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | YY1 | Nick Beauchamp reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | XPR1 | Nick Beauchamp reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938945, 26231937; Phenotypes: Basal ganglia calcification, idiopathic, 6, 605237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WWOX | Nick Beauchamp reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WFS1 | Nick Beauchamp reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WDR81 | Nick Beauchamp reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WDR73 | Nick Beauchamp reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WDR45B | Nick Beauchamp reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WDR45 | Nick Beauchamp reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820, 23435086; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | WASHC5 | Nick Beauchamp reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VRK1 | Nick Beauchamp reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, 607596, Amyotrophic lateral sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VPS53 | Nick Beauchamp reviewed gene: VPS53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VPS35 | Nick Beauchamp reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: 18342564, 21763482; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VPS13D | Nick Beauchamp reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VPS13A | Nick Beauchamp reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VLDLR | Nick Beauchamp reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VCP | Nick Beauchamp reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21145000, 23498975; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VAPB | Nick Beauchamp reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15372378, 18555774; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VAMP1 | Nick Beauchamp reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | VAC14 | Nick Beauchamp reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset, 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | UBQLN2 | Nick Beauchamp reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21857683, 23541532; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TYROBP | Nick Beauchamp reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10888890, 12370476; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TWNK | Nick Beauchamp reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19513767; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TUBB4A | Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25374358; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TTPA | Nick Beauchamp reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TTC19 | Nick Beauchamp reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: 23532514, 21278747; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TTBK2 | Nick Beauchamp reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TSEN54 | Nick Beauchamp reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TSEN2 | Nick Beauchamp reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TREM2 | Nick Beauchamp reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883308, 23318515; Phenotypes: Dementia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TPP1 | Nick Beauchamp reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | TOR1A | Nick Beauchamp reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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