Activity
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| Likely inborn error of metabolism v0.4 | ACO2 | Ellen McDonagh Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | ACO2 |
Ellen McDonagh gene: ACO2 was added gene: ACO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 |
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| Likely inborn error of metabolism v0.4 | ACAT1 |
Ellen McDonagh gene: ACAT1 was added gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 27604308 Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias) |
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| Likely inborn error of metabolism v0.4 | ACADVL |
Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308 Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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| Likely inborn error of metabolism v0.4 | ACADSB |
Ellen McDonagh gene: ACADSB was added gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 27604308 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias) |
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| Likely inborn error of metabolism v0.4 | ACADS |
Ellen McDonagh gene: ACADS was added gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 27604308; 24816252 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of |
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| Likely inborn error of metabolism v0.4 | ACADM |
Ellen McDonagh gene: ACADM was added gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27604308; 24816252 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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| Likely inborn error of metabolism v0.4 | ACAD9 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308 |
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| Likely inborn error of metabolism v0.4 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency |
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| Likely inborn error of metabolism v0.4 | ACAD8 |
Ellen McDonagh gene: ACAD8 was added gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 27604308 Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias) |
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| Likely inborn error of metabolism v0.4 | ABHD5 |
Ellen McDonagh gene: ABHD5 was added gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 27604308 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis) |
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| Likely inborn error of metabolism v0.4 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 27604308 Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis) |
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| Likely inborn error of metabolism v0.4 | ABCG8 |
Ellen McDonagh gene: ABCG8 was added gene: ABCG8 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG8 were set to 27604308 Phenotypes for gene: ABCG8 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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| Likely inborn error of metabolism v0.4 | ABCG5 |
Ellen McDonagh gene: ABCG5 was added gene: ABCG5 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG5 were set to 27604308 Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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| Likely inborn error of metabolism v0.4 | ABCD4 |
Ellen McDonagh gene: ABCD4 was added gene: ABCD4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635 Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type |
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| Likely inborn error of metabolism v0.4 | ABCB11 |
Ellen McDonagh gene: ABCB11 was added gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 27604308 Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847 |
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| Likely inborn error of metabolism v0.4 | ABCA1 |
Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 27604308 Phenotypes for gene: ABCA1 were set to Tangier disease (Disorders of high density lipoprotein metabolism) |
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| Likely inborn error of metabolism v0.4 | ABAT |
Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308 |
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| Likely inborn error of metabolism v0.4 | ABAT |
Ellen McDonagh gene: ABAT was added gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome |
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| Likely inborn error of metabolism v0.4 | AASS |
Ellen McDonagh gene: AASS was added gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 27604308 Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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| Likely inborn error of metabolism v0.4 | AARS2 |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2 Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308 |
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| Likely inborn error of metabolism v0.4 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy |
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| Intellectual disability v2.584 | ZBTB11 |
Konstantinos Varvagiannis gene: ZBTB11 was added gene: ZBTB11 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 29893856; 28382966 Phenotypes for gene: ZBTB11 were set to Intellectual disability Penetrance for gene: ZBTB11 were set to Complete Review for gene: ZBTB11 was set to AMBER Added comment: Fattahi et al. (PMID: 29893856) report on 9 individuals from 2 broader consanguineous pedigrees with biallelic ZBTB11 mutations. Features in the first family (from Iran) consisted of moderate ID, microcephaly, ataxic gait, and spasticity with MRI findings of cerebellar atrophy and ventriculomegaly. Individuals from the second family (from Pakistan) presented with moderate ID and variable features. Homozygosity for missense ZBTB11 variants, private to each family was shown (NM_014415.3:c.2185C>T / p.H729Y and c.2640T>G / p.H880Q for the first and second family respectively). As the authors note, ZBTB11 is predicted to be a zinc finger transcriptional regulator and one of the hypotheses emitted suggests possible disruption of DNA binding. Functional studies performed demonstrated that the mutant proteins were excluded from the nucleolus where the (wt) protein localizes. Previous zebrafish models (PMID: 28382966) suggested CNS degeneration among other phenotypes in Zbtb11 mutants. Knockdown of the drosophila ZBTB11-ortholog (CkIIα-i1) resulted in recognizable shrinking of the mushroom body with significant reduction in the number of neurons compared to controls. Other Zinc Finger and BTB Domain-Containing proteins cause disorders with ID as a prominent feature (eg. ZBTB16, ZBTB20, etc.). ZBTB11 is not associated with any phenotype in OMIM nor in G2P. As a result, this gene can be considered for inclusion in this panel probably as amber (2 pedigrees only) or green (given the supportive functional studies). Sources: Literature |
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| Intellectual disability v2.584 | NR4A2 |
Konstantinos Varvagiannis gene: NR4A2 was added gene: NR4A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR4A2 were set to 29770430; 30504930; 28544326; 27569545; 23554088; 28135719; 27479843; 25363768 Phenotypes for gene: NR4A2 were set to Language impairment; Intellectual disability; Autism; Behavioral abnormality Penetrance for gene: NR4A2 were set to unknown Review for gene: NR4A2 was set to GREEN gene: NR4A2 was marked as current diagnostic Added comment: Recent publications provide several lines of evidence that pathogenic NR4A2 variants cause DD/ID and/or autism spectrum disorder (ASD). Lévy et al. (PMID: 29770430) summarize the phenotype of 2q24.1 microdeletions spanning either only NR4A2 [2 new patients as well as an individual reported by Reuter et al (PMID: 28544326)] or both NR4A2 and GPD2 (1 patient from this study as well as 2 further from Leppa et al. (PMID: 27569545) and Barge-Schaapveld et al. (PMID: 23554088)]. All these CNVs had occurred as de novo events. Common features included - among others - language impairment (6/6), ID (6/6), ASD (3/4) or abnormal behaviour (4/4). As the authors note, NR4A2 belongs to a subfamily of highly conserved transcription factors. The gene is involved in several developmental processes, among others in neuronal development. Previous studies have also shown high expression in human fetal brain as well as a role in the development of language-related brain regions. The absence of CNVs in general population encompassing NR4A2 (and presence of such CNVs spanning GDP2) as well as the minimal deletions confined to NR4A2 suggest that happloinsufficiency of NR4A2 is responsible for the DD/ID/ASD phenotypes. This is also supported by the HI index of 1.28 as well as pLI of 0.99. Guo et al. (PMID: 30504930) report on a patient with de novo frameshift variant (p.P201Rfs*82) and provide a summary of individuals with de novo missense variants reported in larger DD/ID/ASD cohorts, namely : - The DDD study (PMID: 28135719) : subjects DDD4K.00386 (R312Q - https://decipher.sanger.ac.uk/ddd/research-variant/1e7622c3a0ba1b506c5808ccea46e759#overview) and DDD4K.04161 (R289P - https://decipher.sanger.ac.uk/ddd/research-variant/673e8e570d28dd0c5797ddafb22e53eb#overview) - By Lelieveld et al. (PMID: 27479843) : patient with ID and V307G - By Iossifov et al. (PMID: 25363768) : subject with ASD and Y275H. [All these appear to cluster in a region of missense constraint : https://decipher.sanger.ac.uk/gene/NR4A2#overview/protein-info]. NR4A2 is not associated with any phenotype in OMIM, nor in G2P. The gene is included in gene panels for intellectual disability offered by diagnostic laboratories (incl. Radboudumc). As a result, it could be considered for inclusion in this panel possibly as green (or amber). Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Hereditary ataxia, adult onset v0.2 | ISCA-37468-Loss |
Eleanor Williams Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621 Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone |
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| Hereditary ataxia, adult onset v0.2 | ISCA-37478-Loss |
Eleanor Williams Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105830 |
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| Hereditary ataxia, adult onset v0.2 | ISCA-37478-Gain |
Eleanor Williams Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 18374305; 9106540; 16840569 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome |
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| Hereditary ataxia, adult onset v0.2 | ISCA-37404-Loss |
Eleanor Williams Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105831 |
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| Hereditary ataxia, adult onset v0.2 | ZNF592 |
Eleanor Williams gene: ZNF592 was added gene: ZNF592 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5 |
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| Hereditary ataxia, adult onset v0.2 | ZFYVE26 |
Eleanor Williams gene: ZFYVE26 was added gene: ZFYVE26 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 25842392; 25497598 Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. |
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| Hereditary ataxia, adult onset v0.2 | XRCC1 |
Eleanor Williams gene: XRCC1 was added gene: XRCC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 28002403 Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia |
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| Hereditary ataxia, adult onset v0.2 | WWOX |
Eleanor Williams gene: WWOX was added gene: WWOX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322) |
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| Hereditary ataxia, adult onset v0.2 | WFS1 |
Eleanor Williams gene: WFS1 was added gene: WFS1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | WDR81 |
Eleanor Williams gene: WDR81 was added gene: WDR81 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
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| Hereditary ataxia, adult onset v0.2 | WDR73 |
Eleanor Williams gene: WDR73 was added gene: WDR73 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature |
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| Hereditary ataxia, adult onset v0.2 | VRK1 |
Eleanor Williams gene: VRK1 was added gene: VRK1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596) |
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| Hereditary ataxia, adult onset v0.2 | VPS53 |
Eleanor Williams gene: VPS53 was added gene: VPS53 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744 Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851) |
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| Hereditary ataxia, adult onset v0.2 | VPS13D |
Eleanor Williams gene: VPS13D was added gene: VPS13D was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to spastic ataxia |
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| Hereditary ataxia, adult onset v0.2 | VLDLR |
Eleanor Williams gene: VLDLR was added gene: VLDLR was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | VAMP1 |
Eleanor Williams gene: VAMP1 was added gene: VAMP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600 |
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| Hereditary ataxia, adult onset v0.2 | UCHL1 |
Eleanor Williams gene: UCHL1 was added gene: UCHL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 23359680 Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy |
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| Hereditary ataxia, adult onset v0.2 | UBR4 |
Eleanor Williams gene: UBR4 was added gene: UBR4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR4 were set to 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia |
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| Hereditary ataxia, adult onset v0.2 | TWNK |
Eleanor Williams gene: TWNK was added gene: TWNK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) |
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| Hereditary ataxia, adult onset v0.2 | TUBB4A |
Eleanor Williams gene: TUBB4A was added gene: TUBB4A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 25497598 Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | TTPA |
Eleanor Williams gene: TTPA was added gene: TTPA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency |
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| Hereditary ataxia, adult onset v0.2 | TTC19 |
Eleanor Williams gene: TTC19 was added gene: TTC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157) |
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| Hereditary ataxia, adult onset v0.2 | TTBK2 |
Eleanor Williams gene: TTBK2 was added gene: TTBK2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11 |
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| Hereditary ataxia, adult onset v0.2 | TSEN54 |
Eleanor Williams gene: TSEN54 was added gene: TSEN54 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) |
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| Hereditary ataxia, adult onset v0.2 | TSEN34 |
Eleanor Williams gene: TSEN34 was added gene: TSEN34 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390) |
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| Hereditary ataxia, adult onset v0.2 | TSEN2 |
Eleanor Williams gene: TSEN2 was added gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389) |
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| Hereditary ataxia, adult onset v0.2 | TPP1 |
Eleanor Williams gene: TPP1 was added gene: TPP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) |
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| Hereditary ataxia, adult onset v0.2 | TMEM240 |
Eleanor Williams gene: TMEM240 was added gene: TMEM240 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101) |
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| Hereditary ataxia, adult onset v0.2 | TGM6 |
Eleanor Williams gene: TGM6 was added gene: TGM6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35 |
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| Hereditary ataxia, adult onset v0.2 | TDP1 |
Eleanor Williams gene: TDP1 was added gene: TDP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy |
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| Hereditary ataxia, adult onset v0.2 | TBP |
Eleanor Williams gene: TBP was added gene: TBP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TBP was set to Unknown Phenotypes for gene: TBP were set to Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 Mode of pathogenicity for gene: TBP was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | SYT14 |
Eleanor Williams gene: SYT14 was added gene: SYT14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229 |
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| Hereditary ataxia, adult onset v0.2 | SYNE1 |
Eleanor Williams gene: SYNE1 was added gene: SYNE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8 |
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| Hereditary ataxia, adult onset v0.2 | STUB1 |
Eleanor Williams gene: STUB1 was added gene: STUB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16 |
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| Hereditary ataxia, adult onset v0.2 | SRD5A3 |
Eleanor Williams gene: SRD5A3 was added gene: SRD5A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | SPTBN2 |
Eleanor Williams gene: SPTBN2 was added gene: SPTBN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar ataxia 5; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) |
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| Hereditary ataxia, adult onset v0.2 | SPR |
Eleanor Williams gene: SPR was added gene: SPR was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 |
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| Hereditary ataxia, adult onset v0.2 | SPG7 |
Eleanor Williams gene: SPG7 was added gene: SPG7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 25681447 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia |
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| Hereditary ataxia, adult onset v0.2 | SNX14 |
Eleanor Williams gene: SNX14 was added gene: SNX14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354) |
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| Hereditary ataxia, adult onset v0.2 | SLC9A6 |
Eleanor Williams gene: SLC9A6 was added gene: SLC9A6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Hereditary ataxia, adult onset v0.2 | SLC6A5 |
Eleanor Williams gene: SLC6A5 was added gene: SLC6A5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to 16751771 Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3 |
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| Hereditary ataxia, adult onset v0.2 | SLC2A1 |
Eleanor Williams gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 |
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| Hereditary ataxia, adult onset v0.2 | SLC1A3 |
Eleanor Williams gene: SLC1A3 was added gene: SLC1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 |
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| Hereditary ataxia, adult onset v0.2 | SIL1 |
Eleanor Williams gene: SIL1 was added gene: SIL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | SETX |
Eleanor Williams gene: SETX was added gene: SETX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 |
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| Hereditary ataxia, adult onset v0.2 | SEPSECS |
Eleanor Williams gene: SEPSECS was added gene: SEPSECS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811) |
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| Hereditary ataxia, adult onset v0.2 | SCN9A |
Eleanor Williams gene: SCN9A was added gene: SCN9A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary |
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| Hereditary ataxia, adult onset v0.2 | SCN8A |
Eleanor Williams gene: SCN8A was added gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306 |
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| Hereditary ataxia, adult onset v0.2 | SCN1A |
Eleanor Williams gene: SCN1A was added gene: SCN1A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 |
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| Hereditary ataxia, adult onset v0.2 | SAR1B |
Eleanor Williams gene: SAR1B was added gene: SAR1B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700 |
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| Hereditary ataxia, adult onset v0.2 | SACS |
Eleanor Williams gene: SACS was added gene: SACS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type |
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| Hereditary ataxia, adult onset v0.2 | RUBCN |
Eleanor Williams gene: RUBCN was added gene: RUBCN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to 20826435 |
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| Hereditary ataxia, adult onset v0.2 | RNF216 |
Eleanor Williams gene: RNF216 was added gene: RNF216 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 |
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| Hereditary ataxia, adult onset v0.2 | RNF170 |
Eleanor Williams gene: RNF170 was added gene: RNF170 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant |
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| Hereditary ataxia, adult onset v0.2 | RELN |
Eleanor Williams gene: RELN was added gene: RELN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | RARS2 |
Eleanor Williams gene: RARS2 was added gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia |
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| Hereditary ataxia, adult onset v0.2 | PRRT2 |
Eleanor Williams gene: PRRT2 was added gene: PRRT2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS |
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| Hereditary ataxia, adult onset v0.2 | PRNP |
Eleanor Williams gene: PRNP was added gene: PRNP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRNP were set to Gerstmann-Straussler disease; Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1 |
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| Hereditary ataxia, adult onset v0.2 | PRKCG |
Eleanor Williams gene: PRKCG was added gene: PRKCG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14 |
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| Hereditary ataxia, adult onset v0.2 | PRICKLE1 |
Eleanor Williams gene: PRICKLE1 was added gene: PRICKLE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia |
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| Hereditary ataxia, adult onset v0.2 | PPP2R2B |
Eleanor Williams gene: PPP2R2B was added gene: PPP2R2B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | POLR3A |
Eleanor Williams gene: POLR3A was added gene: POLR3A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 25655951 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia |
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| Hereditary ataxia, adult onset v0.2 | POLG |
Eleanor Williams gene: POLG was added gene: POLG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) |
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| Hereditary ataxia, adult onset v0.2 | PNPLA6 |
Eleanor Williams gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Oliver-McFarlane syndrome (#603197) |
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| Hereditary ataxia, adult onset v0.2 | PNKP |
Eleanor Williams gene: PNKP was added gene: PNKP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267) |
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| Hereditary ataxia, adult onset v0.2 | PNKD |
Eleanor Williams gene: PNKD was added gene: PNKD was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 15262732; 15496428; 15824259 Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
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| Hereditary ataxia, adult onset v0.2 | PMPCA |
Eleanor Williams gene: PMPCA was added gene: PMPCA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to 25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. |
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| Hereditary ataxia, adult onset v0.2 | PLA2G6 |
Eleanor Williams gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217) |
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| Hereditary ataxia, adult onset v0.2 | PIK3R5 |
Eleanor Williams gene: PIK3R5 was added gene: PIK3R5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3 |
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| Hereditary ataxia, adult onset v0.2 | PEX16 |
Eleanor Williams gene: PEX16 was added gene: PEX16 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Zellweger syndrome (614876) |
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| Hereditary ataxia, adult onset v0.2 | PDYN |
Eleanor Williams gene: PDYN was added gene: PDYN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23 |
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| Hereditary ataxia, adult onset v0.2 | PCLO |
Eleanor Williams gene: PCLO was added gene: PCLO was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. |
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| Hereditary ataxia, adult onset v0.2 | PAX6 |
Eleanor Williams gene: PAX6 was added gene: PAX6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation |
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| Hereditary ataxia, adult onset v0.2 | PAX2 |
Eleanor Williams gene: PAX2 was added gene: PAX2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PAX2 was set to Unknown Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2) |
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| Hereditary ataxia, adult onset v0.2 | OPHN1 |
Eleanor Williams gene: OPHN1 was added gene: OPHN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Hereditary ataxia, adult onset v0.2 | OPA3 |
Eleanor Williams gene: OPA3 was added gene: OPA3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome |
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| Hereditary ataxia, adult onset v0.2 | NPC2 |
Eleanor Williams gene: NPC2 was added gene: NPC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625) |
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| Hereditary ataxia, adult onset v0.2 | NPC1 |
Eleanor Williams gene: NPC1 was added gene: NPC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220) |
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| Hereditary ataxia, adult onset v0.2 | NOP56 |
Eleanor Williams gene: NOP56 was added gene: NOP56 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153 Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | NKX6-2 |
Eleanor Williams gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
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| Hereditary ataxia, adult onset v0.2 | NKX2-1 |
Eleanor Williams gene: NKX2-1 was added gene: NKX2-1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 |
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| Hereditary ataxia, adult onset v0.2 | NHLRC1 |
Eleanor Williams gene: NHLRC1 was added gene: NHLRC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to 15781812; 12958597 Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780 |
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| Hereditary ataxia, adult onset v0.2 | NAGLU |
Eleanor Williams gene: NAGLU was added gene: NAGLU was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD); Sanfilippo syndrome B (AR) (OMIM #252920) Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | MVK |
Eleanor Williams gene: MVK was added gene: MVK was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377 |
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| Hereditary ataxia, adult onset v0.2 | MTTP |
Eleanor Williams gene: MTTP was added gene: MTTP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 |
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| Hereditary ataxia, adult onset v0.2 | MTPAP |
Eleanor Williams gene: MTPAP was added gene: MTPAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4, |
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| Hereditary ataxia, adult onset v0.2 | MT-ATP6 |
Eleanor Williams gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa |
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| Hereditary ataxia, adult onset v0.2 | MRE11 |
Eleanor Williams gene: MRE11 was added gene: MRE11 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder |
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| Hereditary ataxia, adult onset v0.2 | MMACHC |
Eleanor Williams gene: MMACHC was added gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26283149 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) |
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| Hereditary ataxia, adult onset v0.2 | MARS2 |
Eleanor Williams gene: MARS2 was added gene: MARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive |
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| Hereditary ataxia, adult onset v0.2 | KIF1C |
Eleanor Williams gene: KIF1C was added gene: KIF1C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive |
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| Hereditary ataxia, adult onset v0.2 | KCNQ3 |
Eleanor Williams gene: KCNQ3 was added gene: KCNQ3 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201 |
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| Hereditary ataxia, adult onset v0.2 | KCNQ2 |
Eleanor Williams gene: KCNQ2 was added gene: KCNQ2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Myokymia, 121200 |
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| Hereditary ataxia, adult onset v0.2 | KCNK18 |
Eleanor Williams gene: KCNK18 was added gene: KCNK18 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Brain channelopathy v1.46 Mode of inheritance for gene: KCNK18 was set to Unknown Publications for gene: KCNK18 were set to 20871611; 22355750 Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 |
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| Hereditary ataxia, adult onset v0.2 | KCNJ10 |
Eleanor Williams gene: KCNJ10 was added gene: KCNJ10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome |
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| Hereditary ataxia, adult onset v0.2 | KCND3 |
Eleanor Williams gene: KCND3 was added gene: KCND3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19, 607346 |
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| Hereditary ataxia, adult onset v0.2 | KCNC3 |
Eleanor Williams gene: KCNC3 was added gene: KCNC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 |
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| Hereditary ataxia, adult onset v0.2 | KCNA1 |
Eleanor Williams gene: KCNA1 was added gene: KCNA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome; myokymia with periodic ataxia |
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| Hereditary ataxia, adult onset v0.2 | ITPR1 |
Eleanor Williams gene: ITPR1 was added gene: ITPR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29 Mode of pathogenicity for gene: ITPR1 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | HTT |
Eleanor Williams gene: HTT was added gene: HTT was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HTT were set to Huntington disease 143100 Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | HEXB |
Eleanor Williams gene: HEXB was added gene: HEXB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | HEXA |
Eleanor Williams gene: HEXA was added gene: HEXA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | GRM1 |
Eleanor Williams gene: GRM1 was added gene: GRM1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13 |
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| Hereditary ataxia, adult onset v0.2 | GRID2 |
Eleanor Williams gene: GRID2 was added gene: GRID2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 25841024 Phenotypes for gene: GRID2 were set to Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. |
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| Hereditary ataxia, adult onset v0.2 | GPAA1 |
Eleanor Williams gene: GPAA1 was added gene: GPAA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095; 24896178 Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 |
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| Hereditary ataxia, adult onset v0.2 | GOSR2 |
Eleanor Williams gene: GOSR2 was added gene: GOSR2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to 24285620; 20301317; 21549339 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 |
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| Hereditary ataxia, adult onset v0.2 | GLRB |
Eleanor Williams gene: GLRB was added gene: GLRB was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 23238346; 11929858; 21391991 Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2 |
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| Hereditary ataxia, adult onset v0.2 | GLRA1 |
Eleanor Williams gene: GLRA1 was added gene: GLRA1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1 |
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| Hereditary ataxia, adult onset v0.2 | GJC2 |
Eleanor Williams gene: GJC2 was added gene: GJC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia |
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| Hereditary ataxia, adult onset v0.2 | GFAP |
Eleanor Williams gene: GFAP was added gene: GFAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to Alexander disease; Autosomal Dominant Ataxia |
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| Hereditary ataxia, adult onset v0.2 | GBA2 |
Eleanor Williams gene: GBA2 was added gene: GBA2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | FXN |
Eleanor Williams gene: FXN was added gene: FXN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreichataxia, 229300; Friedreich ataxia with retained reflexes,229300 |
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| Hereditary ataxia, adult onset v0.2 | FOLR1 |
Eleanor Williams gene: FOLR1 was added gene: FOLR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | FMR1 |
Eleanor Williams gene: FMR1 was added gene: FMR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FMR1 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: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) |
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| Hereditary ataxia, adult onset v0.2 | FLVCR1 |
Eleanor Williams gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa, |
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| Hereditary ataxia, adult onset v0.2 | FGF14 |
Eleanor Williams gene: FGF14 was added gene: FGF14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 |
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| Hereditary ataxia, adult onset v0.2 | EXOSC3 |
Eleanor Williams gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | EPM2A |
Eleanor Williams gene: EPM2A was added gene: EPM2A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 14722920; 10932264 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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| Hereditary ataxia, adult onset v0.2 | ELOVL5 |
Eleanor Williams gene: ELOVL5 was added gene: ELOVL5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 615957 Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ELOVL4 |
Eleanor Williams gene: ELOVL4 was added gene: ELOVL4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190 |
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| Hereditary ataxia, adult onset v0.2 | EIF2B5 |
Eleanor Williams gene: EIF2B5 was added gene: EIF2B5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Hereditary ataxia, adult onset v0.2 | EIF2B4 |
Eleanor Williams gene: EIF2B4 was added gene: EIF2B4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Hereditary ataxia, adult onset v0.2 | EIF2B3 |
Eleanor Williams gene: EIF2B3 was added gene: EIF2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Hereditary ataxia, adult onset v0.2 | EIF2B2 |
Eleanor Williams gene: EIF2B2 was added gene: EIF2B2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Hereditary ataxia, adult onset v0.2 | EIF2B1 |
Eleanor Williams gene: EIF2B1 was added gene: EIF2B1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease |
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| Hereditary ataxia, adult onset v0.2 | DYNC1H1 |
Eleanor Williams gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability |
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| Hereditary ataxia, adult onset v0.2 | DNMT1 |
Eleanor Williams gene: DNMT1 was added gene: DNMT1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, |
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| Hereditary ataxia, adult onset v0.2 | DNAJC5 |
Eleanor Williams gene: DNAJC5 was added gene: DNAJC5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 |
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| Hereditary ataxia, adult onset v0.2 | DNAJC19 |
Eleanor Williams gene: DNAJC19 was added gene: DNAJC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27604308; 16055927; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria, type V 610198 |
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| Hereditary ataxia, adult onset v0.2 | DMXL2 |
Eleanor Williams gene: DMXL2 was added gene: DMXL2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098 Phenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss |
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| Hereditary ataxia, adult onset v0.2 | DDHD2 |
Eleanor Williams gene: DDHD2 was added gene: DDHD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. |
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| Hereditary ataxia, adult onset v0.2 | DARS2 |
Eleanor Williams gene: DARS2 was added gene: DARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | DAB1 |
Eleanor Williams gene: DAB1 was added gene: DAB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945 Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | CYP2U1 |
Eleanor Williams gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. |
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| Hereditary ataxia, adult onset v0.2 | CYP27A1 |
Eleanor Williams gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | CWF19L1 |
Eleanor Williams gene: CWF19L1 was added gene: CWF19L1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | CSTB |
Eleanor Williams gene: CSTB was added gene: CSTB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 |
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| Hereditary ataxia, adult onset v0.2 | CP |
Eleanor Williams gene: CP was added gene: CP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia, |
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| Hereditary ataxia, adult onset v0.2 | COX20 |
Eleanor Williams gene: COX20 was added gene: COX20 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hereditary ataxia, adult onset v0.2 | COQ8A |
Eleanor Williams gene: COQ8A was added gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
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| Hereditary ataxia, adult onset v0.2 | COG5 |
Eleanor Williams gene: COG5 was added gene: COG5 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 28960046; 19690088 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type Iii 613612 |
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| Hereditary ataxia, adult onset v0.2 | CLP1 |
Eleanor Williams gene: CLP1 was added gene: CLP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803) |
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| Hereditary ataxia, adult onset v0.2 | CLN6 |
Eleanor Williams gene: CLN6 was added gene: CLN6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) |
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| Hereditary ataxia, adult onset v0.2 | CLCN2 |
Eleanor Williams gene: CLCN2 was added gene: CLCN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 23707145; 19191339 Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 |
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| Hereditary ataxia, adult onset v0.2 | CHMP1A |
Eleanor Williams gene: CHMP1A was added gene: CHMP1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961) |
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| Hereditary ataxia, adult onset v0.2 | CCDC88C |
Eleanor Williams gene: CCDC88C was added gene: CCDC88C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia Mode of pathogenicity for gene: CCDC88C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | CASK |
Eleanor Williams gene: CASK was added gene: CASK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Hereditary ataxia, adult onset v0.2 | CAMTA1 |
Eleanor Williams gene: CAMTA1 was added gene: CAMTA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 |
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| Hereditary ataxia, adult onset v0.2 | CACNB4 |
Eleanor Williams gene: CACNB4 was added gene: CACNB4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to 10762541; PMC1378014 Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; Episodic Ataxia |
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| Hereditary ataxia, adult onset v0.2 | CACNA1G |
Eleanor Williams gene: CACNA1G was added gene: CACNA1G was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | CACNA1A |
Eleanor Williams gene: CACNA1A was added gene: CACNA1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 17575281; 21734179 Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia |
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| Hereditary ataxia, adult onset v0.2 | CA8 |
Eleanor Williams gene: CA8 was added gene: CA8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
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| Hereditary ataxia, adult onset v0.2 | BEAN1 |
Eleanor Williams gene: BEAN1 was added gene: BEAN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BEAN1 were set to 19878914 Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210 |
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| Hereditary ataxia, adult onset v0.2 | ATXN8 |
Eleanor Williams gene: ATXN8 was added gene: ATXN8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768 Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATXN7 |
Eleanor Williams gene: ATXN7 was added gene: ATXN7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN7 was set to Unknown Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia 7,164500 Mode of pathogenicity for gene: ATXN7 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATXN3 |
Eleanor Williams gene: ATXN3 was added gene: ATXN3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATXN2 |
Eleanor Williams gene: ATXN2 was added gene: ATXN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN2 was set to Unknown Phenotypes for gene: ATXN2 were set to {Amyotrophiclateralsclerosis,susceptibilityto,13},183090; Spinocerebellarataxia2, 183090 Mode of pathogenicity for gene: ATXN2 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATXN10 |
Eleanor Williams gene: ATXN10 was added gene: ATXN10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10, 603516 Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATXN1 |
Eleanor Williams gene: ATXN1 was added gene: ATXN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN1 was set to Unknown Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400 Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATP8A2 |
Eleanor Williams gene: ATP8A2 was added gene: ATP8A2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 |
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| Hereditary ataxia, adult onset v0.2 | ATP7B |
Eleanor Williams gene: ATP7B was added gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900 |
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| Hereditary ataxia, adult onset v0.2 | ATP2B3 |
Eleanor Williams gene: ATP2B3 was added gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP2B3 was set to Unknown Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1 |
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| Hereditary ataxia, adult onset v0.2 | ATP1A3 |
Eleanor Williams gene: ATP1A3 was added gene: ATP1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 22842232; 22850527 Phenotypes for gene: ATP1A3 were set to Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) |
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| Hereditary ataxia, adult onset v0.2 | ATP1A2 |
Eleanor Williams gene: ATP1A2 was added gene: ATP1A2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581 |
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| Hereditary ataxia, adult onset v0.2 | ATN1 |
Eleanor Williams gene: ATN1 was added gene: ATN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370 Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ATM |
Eleanor Williams gene: ATM was added gene: ATM was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-Telangiectasia |
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| Hereditary ataxia, adult onset v0.2 | ATCAY |
Eleanor Williams gene: ATCAY was added gene: ATCAY was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type |
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| Hereditary ataxia, adult onset v0.2 | ARSA |
Eleanor Williams gene: ARSA was added gene: ARSA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100) |
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| Hereditary ataxia, adult onset v0.2 | APTX |
Eleanor Williams gene: APTX was added gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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| Hereditary ataxia, adult onset v0.2 | AP1S2 |
Eleanor Williams gene: AP1S2 was added gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Hereditary ataxia, adult onset v0.2 | ANO10 |
Eleanor Williams gene: ANO10 was added gene: ANO10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 |
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| Hereditary ataxia, adult onset v0.2 | AMPD2 |
Eleanor Williams gene: AMPD2 was added gene: AMPD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 24482476 Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809) |
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| Hereditary ataxia, adult onset v0.2 | ALAS2 |
Eleanor Williams gene: ALAS2 was added gene: ALAS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Hereditary ataxia, adult onset v0.2 | AFG3L2 |
Eleanor Williams gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia 28 Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments |
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| Hereditary ataxia, adult onset v0.2 | ADCY5 |
Eleanor Williams gene: ADCY5 was added gene: ADCY5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 11310626; 24700542 Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703 |
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| Hereditary ataxia, adult onset v0.2 | ABHD12 |
Eleanor Williams gene: ABHD12 was added gene: ABHD12 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) |
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| Hereditary ataxia, adult onset v0.2 | ABCB7 |
Eleanor Williams gene: ABCB7 was added gene: ABCB7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ABCB7 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: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia |
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| Hereditary ataxia, adult onset v0.2 | AARS |
Eleanor Williams gene: AARS was added gene: AARS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Hereditary ataxia, adult onset v0.2 | AAAS |
Eleanor Williams gene: AAAS was added gene: AAAS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal |
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| Intellectual disability v2.584 | ELN | Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: 20301427, 14556246, 11701637; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | ELN | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | ELN | Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 20301427, 14556246, 11701637; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | TRPS1 | Konstantinos Varvagiannis reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28426188, 25792522, 28256045, 11112658, 17689056, 22127049, 14560312, 17854380; Phenotypes: Trichorhinophalangeal syndrome, type I (MIM 190350), Trichorhinophalangeal syndrome, type III (MIM 190351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | GUCY2C | Konstantinos Varvagiannis reviewed gene: GUCY2C: Rating: RED; Mode of pathogenicity: None; Publications: 22436048; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | RASA1 | Konstantinos Varvagiannis reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: 29891884, 21348050, 21626678; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.1 | AIMP2 |
Konstantinos Varvagiannis gene: AIMP2 was added gene: AIMP2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP2 were set to 29215095 Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 (MIM 618006) Penetrance for gene: AIMP2 were set to Complete Review for gene: AIMP2 was set to AMBER Added comment: Biallelic pathogenic variants in AIMP2 cause Leukodystrophy, hypomyelinating, 17 (MIM 618006). 3 individuals from 2 unrelated consanguineous families, of Indian origin have been reported (all in PMID: 29215095). The phenotype consisted of feeding difficulties, lack of development with intellectual disability and seizures (3/3) as well as brain MRI abnormalities (cerebral and cerebellar atrophy, hypo-intensities of the basal ganglia on T2w sequences). Severe microcephaly was observed in 2 patients for whom this information was available (birth measurements not specified). All patients described to date were homozygous for a nonsense variant [NM_006303.3:c.105C>A or p.(Tyr35Ter)] which appears to be a founder mutation in this population. Quantitative reverse transcription PCR demonstrated reduced mRNA levels in peripheral lymphocytes, but this decrease was not significant compared to controls (the authors presume low level of NMD). Previous mouse models provide some - but not substantial - support. The authors note marked similarity with the phenotype associated with AIMP1 (Leukodystrophy, hypomyelinating, 3 - MIM 260600), another auxiliary protein of the macromolecular multienzyme multi-tRNA synthetase complex. AIMP1 is listed in the current panel as green. AIMP2 is not associated with any phenotype in G2P. As a result, this gene can be considered for inclusion in this panel probably as amber. Sources: Literature |
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| Intellectual disability v2.584 | AIMP2 |
Konstantinos Varvagiannis gene: AIMP2 was added gene: AIMP2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP2 were set to 29215095 Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 (MIM 618006) Penetrance for gene: AIMP2 were set to Complete Review for gene: AIMP2 was set to AMBER gene: AIMP2 was marked as current diagnostic Added comment: Biallelic pathogenic variants in AIMP2 cause Leukodystrophy, hypomyelinating, 17 (MIM 618006). 3 individuals from 2 unrelated consanguineous families, of Indian origin have been reported (all in PMID: 29215095). The phenotype consisted of feeding difficulties, lack of development with intellectual disability and seizures as well as brain MRI abnormalities (cerebral and cerebellar atrophy, hypo-intensities of the basal ganglia on T2w sequences). Severe microcephaly was observed in 2 patients for whom this information was available (birth measurements not specified). All patients described to date were homozygous for a nonsense variant [NM_006303.3:c.105C>A or p.(Tyr35Ter)] which appears to be a founder mutation in this population. Quantitative reverse transcription PCR demonstrated reduced mRNA levels in peripheral lymphocytes, but this decrease was not significant compared to controls (the authors presume low level of NMD). Previous mouse models provide some - but not substantial - support. The authors note marked similarity with the phenotype associated with AIMP1 (Leukodystrophy, hypomyelinating, 3 - MIM 260600), another auxiliary protein of the macromolecular multienzyme multi-tRNA synthetase complex. AIMP1 is listed in the current panel as green. AIMP2 is not associated with any phenotype in G2P. This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc). As a result, AIMP2 can be considered for inclusion in this panel probably as amber. Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Early onset or syndromic epilepsy v1.1 | VPS11 |
Konstantinos Varvagiannis gene: VPS11 was added gene: VPS11 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 27120463; 26307567; 27473128 Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683) Penetrance for gene: VPS11 were set to Complete Review for gene: VPS11 was set to GREEN Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683). PMIDs: 27120463, 26307567, 27473128 all report on this disorder. The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals. Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families. A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents. Seizures were also noted in these individuals. Pathogenicity is supported by extensive functional studies in all relevant articles. VPS11 is not associated with any phenotype in G2P. As a result, this gene can be considered for inclusion in this panel probably as green (or amber). [Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel]. Sources: Literature |
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| Intellectual disability v2.584 | VPS11 |
Konstantinos Varvagiannis gene: VPS11 was added gene: VPS11 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 27120463; 26307567; 27473128 Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683) Penetrance for gene: VPS11 were set to Complete Review for gene: VPS11 was set to GREEN gene: VPS11 was marked as current diagnostic Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683). PMIDs: 27120463, 26307567, 27473128 all report on this disorder. The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals. Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families. A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents. Pathogenicity is supported by extensive functional studies in all relevant articles. VPS11 is not associated with any phenotype in G2P. The gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). As a result, this gene can be considered for inclusion in this panel as green. [Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel]. Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Pituitary hormone deficiency v0.62 | SLC15A4 | Ivone Leong Publications for gene: SLC15A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.61 | GNRHR | Ivone Leong Classified gene: GNRHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.61 | GNRHR | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GNRHR is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM but no phenotypes have been listed in Gene2Phenotype. It is also a green gene in the Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with Hypogonadotropic hypogonadism with variants in the GNRHR gene listed in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.61 | GNRHR | Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Classified gene: GHSR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHSR is confirmed to be associated with isolated partial growth hormone deficiency in OMIM but no phenotypes are listed in Gene2Phenotype. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the GHSR gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Gene: ghsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.59 | GHSR | Ivone Leong Publications for gene: GHSR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.58 | GHRH | Ivone Leong commented on gene: GHRH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.58 | GHRH | Ivone Leong Publications for gene: GHRH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | PITRM1 |
Konstantinos Varvagiannis gene: PITRM1 was added gene: PITRM1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861 Phenotypes for gene: PITRM1 were set to Intellectual disability; Ataxia Penetrance for gene: PITRM1 were set to Complete Review for gene: PITRM1 was set to GREEN gene: PITRM1 was marked as current diagnostic Added comment: Biallelic pathogenic variants in PITRM1 seem to be associated with a phenotype of DD/ID and spinocerebellar ataxia. 6 individuals from 3 unrelated families have been reported. PMID: 26697887 reports on 2 individuals from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln). PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. All affected individuals for both families were homozygous for a further missense variant (p.Thr931Met). The boys from one Palestinian family appeared to be more severely affected - compared to the sibs from the other family with the same variant - due to a concurrent X-chromosome rearrangement. Pathogenicity is supported by extensive functional studies performed in both articles as well as an additional one (PMID: 29383861) on Arg183Gln. PITRM1 is included in gene panels for ID offered by (few) diagnostic laboratories. The gene is not associated with any phenotype in OMIM nor in G2P. As a result, PITRM1 can be considered for inclusion in the ID panel as green (or amber). Sources: Literature |
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| Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Classified gene: ZIC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. ZIC2 is confirmed to be associated with holoprosencephaly in OMIM and Gene2Phenotype and is a green gene in the holoprosencephaly panel (Version 1.6). However, there is only one case of a patient with holoprosencephaly with a variant in ZIC2 who has pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.57 | ZIC2 | Ivone Leong Gene: zic2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.56 | ZIC2 | Ivone Leong Publications for gene: ZIC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.55 | SIX3 | Ivone Leong Classified gene: SIX3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.55 | SIX3 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. SIX3 is confirmed to be associated with Holoprosencephaly in OMIM and Gene2Phenotype and is a green gene on the Holoprosencephaly gene panel (Version 1.6). However, there is no evidence that patients with Holoprosencephaly with variants in the SIX3 gene has pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.55 | SIX3 | Ivone Leong Gene: six3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Classified gene: PSTPIP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Gene: pstpip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.53 | PTCH1 | Ivone Leong Classified gene: PTCH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.53 | PTCH1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. PTCH1 is confirmed to be associated with Holoprosencephaly 7 in OMIM and Gene2Phenotype, and it is a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with Holoprosencephaly with a variant in the PTCH1 gene who has panhypopituitarism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.53 | PTCH1 | Ivone Leong Gene: ptch1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.52 | PTCH1 | Ivone Leong Publications for gene: PTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | LINGO1 |
Konstantinos Varvagiannis gene: LINGO1 was added gene: LINGO1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161 Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 (MIM 618103) Penetrance for gene: LINGO1 were set to Complete Review for gene: LINGO1 was set to AMBER gene: LINGO1 was marked as current diagnostic Added comment: Biallelic pathogenic variants in LINGO1 cause Mental retardation, autosomal recessive 64 (MIM 618103). Ansar et al. (PMID: 28837161) report on 5 individuals from 2 consanguineous Pakistani families. Affected individuals from both families presented with similar phenotype consisting of global developmental delay (5/5), intellectual disability (5/5), microcephaly (4/5) as well as abnormal behavior (5/5). Subjects from both families were homozygous for missense variants (private to each family) affecting proximal residues (290 and 288) of the protein (NM_032808.6:c.869G>A or p.Arg290His and c.863A>G or p.Tyr288Cys). All variants were absent in an ethnically matched control cohort (201 individuals) as well as the relevant subpopulation in gnomAD. Functional studies were not performed. LINGO1 is a transmembrane protein predominantly expressed in the CNS. Previous studies suggest that this protein has an important role in myelination, neuronal survival and CNS repair. LINGO1 is rather intolerant to both missense and LoF variants (Z-score of 4 and pLI of 0.95). According to the authors these variants may be hypomorphic, which might in turn suggest that monoallelic heterozygous LoF mutations could cause ID (although this remains an assumption). This gene is not associated with any phenotype in G2P but is included in panels for ID offered by diagnostic laboratories (incl. Radboudumc). As a result, LINGO1 can be considered for inclusion in this panel probably as amber (2 families, no functional studies). Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Pituitary hormone deficiency v0.51 | NODAL | Ivone Leong Classified gene: NODAL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.51 | NODAL | Ivone Leong Added comment: Comment on list classification: Demonted from amber to red. NODAL is a red gene on the Holoprosencephaly panel (Version 1.6) and there is insufficient evidence to suggest it is involved in pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.51 | NODAL | Ivone Leong Gene: nodal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.50 | FOXA2 | Ivone Leong Mode of inheritance for gene: FOXA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.49 | FOXA2 | Ivone Leong Classified gene: FOXA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.49 | FOXA2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FOXA2 is not associated with any phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with congenical hypopituitarism who have de novo variants in FOX2A gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.49 | FOXA2 | Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.48 | FOXA2 | Ivone Leong Publications for gene: FOXA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.47 | FOXA2 | Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number; hypopituitarism to No OMIM number; Congenital hypopituitarism; Congenital hyperinsulinism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.46 | FOXA2 | Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number to No OMIM number; hypopituitarism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | SLC1A2 | Konstantinos Varvagiannis reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 28777935; Phenotypes: Epileptic encephalopathy, early infantile, 41 (MIM 617105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | ABCC6 | Konstantinos Varvagiannis reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301292, 25392903, 22209248; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | ABCB11 | Konstantinos Varvagiannis reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: 30236549, 20232290; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.45 | IGSF1 | Ivone Leong Classified gene: IGSF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.45 | IGSF1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. IGSF1 is confirmed to be associated with Hypothyroidism, central, and testicular enlargement in OMIM and Gene2Phenotypes. It is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 unrelated cases of patients with variants in IGSF1 who have pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.45 | IGSF1 | Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.44 | IGSF1 | Ivone Leong Publications for gene: IGSF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.1 | PAK1 |
Konstantinos Varvagiannis gene: PAK1 was added gene: PAK1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK1 were set to 30290153 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Penetrance for gene: PAK1 were set to unknown Mode of pathogenicity for gene: PAK1 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: PAK1 was set to AMBER Added comment: Heterozygous pathogenic PAK1 variants cause Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). Harms et al. (PMID: 30290153) report on two unrelated individuals with de novo missense mutations in PAK1. Common features included developmental delay with associated intellectual disability, seizures, ataxic gait. Postnatal-onset microcephaly as well as some facial features were also common to both subjects. Each patient was found to harbour a (private) de novo missense variant [NM_001128620.1:c.392A>G or p.(Tyr131Cys) - c.1286A>G or p.(Tyr429Cys)]. Expression studies demonstrated similar levels for the mutant and wt transcript and Western blot confirmed similar amounts of protein in patient fibroblasts when compared to controls. Functional studies suggest that gain-of-function is the underlying mechanism for both variants. PAK1 is not associated with any phenotype in G2P. As a result, this gene can be considered for inclusion in this panel as amber. Sources: Literature |
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| Intellectual disability v2.584 | PAK1 |
Konstantinos Varvagiannis gene: PAK1 was added gene: PAK1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK1 were set to 30290153 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Penetrance for gene: PAK1 were set to unknown Mode of pathogenicity for gene: PAK1 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: PAK1 was set to AMBER Added comment: Heterozygous pathogenic PAK1 variants cause Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). Harms et al. (PMID: 30290153) report on two unrelated individuals with de novo missense mutations in PAK1. Common features included developmental delay with associated intellectual disability, seizures, ataxic gait. Postnatal-onset microcephaly as well as some facial features were also common to both subjects. Each patient was found to harbour a (private) de novo missense variant [NM_001128620.1:c.392A>G or p.(Tyr131Cys) - c.1286A>G or p.(Tyr429Cys)]. Expression studies demonstrated similar levels for the mutant and wt transcript and Western blot confirmed similar amounts of protein in patient fibroblasts when compared to controls. Functional studies suggest that gain-of-function is the underlying mechanism for both variants. PAK1 is not associated with any phenotype in G2P. As a result, this gene can be considered for inclusion in this panel as amber. Sources: Literature |
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| Early onset or syndromic epilepsy v1.1 | FUK |
Konstantinos Varvagiannis gene: FUK was added gene: FUK was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of vision Penetrance for gene: FUK were set to Complete Review for gene: FUK was set to AMBER Added comment: Ng et al. (PMID: 30503518) report on 2 unrelated individuals with biallelic pathogenic variants in FUK. The common features consisted of feeding difficulties, hypotonia, global developmental delay with severe intellectual disability, seizures as well as visual impairment. The first patient was compound heterozygous for 2 missense variants (Ser223Pro and Arg683Cys) while the second - born to consanguineous parents - was homozygous for Lys994Gln. Significant reduction in the FUK protein amount was demonstrated upon Western blot for the first individual for whom fibroblast and lymphoblast cell lines were available. Fucokinase (FUK) is an enzyme of the fucose salvage pathway, one of the mechanisms (the other and main contributor being the de novo pathway) for synthesis of GDP-fucose. GDP-fucose is a donor substrate for fucosylation, a form of glycosylation. Significant decrease of fucokinase activity was shown for this individual when compared to controls. Cell lines from the second individual were not available for expression/functional studies. Overall the authors suggest that loss-of-function variants cause a congenital disorder of glycosylation with ID and seizures. There are no further cases published in the literature. FUK is not associated with any phenotype in OMIM nor in G2P. As a result this gene can be considered for inclusion in this panel as amber. [You might consider inclusion of this gene also in the CDG gene panel]. Sources: Literature |
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| Intellectual disability v2.584 | FUK |
Konstantinos Varvagiannis gene: FUK was added gene: FUK was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures Penetrance for gene: FUK were set to Complete Review for gene: FUK was set to AMBER Added comment: Ng et al. (PMID: 30503518) report on 2 unrelated individuals with biallelic pathogenic variants in FUK. The common features consisted of feeding difficulties, hypotonia, global developmental delay with severe intellectual disability, seizures as well as visual impairment. The first patient was compound heterozygous for 2 missense variants (Ser223Pro and Arg683Cys) while the second - born to consanguineous parents - was homozygous for Lys994Gln. Significant reduction in the FUK protein amount was demonstrated upon Western blot for the first individual for whom fibroblast and lymphoblast cell lines were available. Fucokinase (FUK) is an enzyme of the fucose salvage pathway, one of the mechanisms (the other and main contributor being the de novo pathway) for synthesis of GDP-fucose. GDP-fucose is a donor substrate for fucosylation, a form of glycosylation. Significant decrease of fucokinase activity was shown for this individual when compared to controls. Cell lines from the second individual were not available for expression/functional studies. Overall the authors suggest loss-of-function variants cause a congenital disorder of glycosylation with ID and seizures. There are no further cases published in the literature. FUK is not associated with any phenotype in OMIM nor in G2P. As a result this gene can be considered for inclusion in this panel as amber. [You might consider inclusion of this gene also in the CDG gene panel]. Sources: Literature |
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| Other rare neuromuscular disorders v0.18 | RBCK1 | Ellen McDonagh Publications for gene: RBCK1 were set to 23104095; 23889995; 23798481; 25041762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.18 | RBCK1 | Ellen McDonagh Publications for gene: RBCK1 were set to 23798481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.17 | RBCK1 | Ellen McDonagh Classified gene: RBCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.17 | RBCK1 | Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22 panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.17 | RBCK1 | Ellen McDonagh Gene: rbck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.16 | ISPD | Ellen McDonagh Classified gene: ISPD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.16 | ISPD | Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Congenital muscular dystrophy v1.19 panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.16 | ISPD | Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | SLC1A2 | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.15 | DYSF | Ellen McDonagh Publications for gene: DYSF were set to 25821721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.14 | DYSF | Ellen McDonagh Classified gene: DYSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.14 | DYSF | Ellen McDonagh Added comment: Comment on list classification: This is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22, Distal myopathies v1.10, Limb girdle muscular dystrophy v1.12 panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.14 | DYSF | Ellen McDonagh Gene: dysf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.13 | DES | Ellen McDonagh Publications for gene: DES were set to 23687351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.12 | DAG1 | Ellen McDonagh Publications for gene: DAG1 were set to 21388311; 25503980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.11 | CRYAB | Ellen McDonagh Publications for gene: CRYAB were set to 21337604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.584 | SLC1A2 |
Konstantinos Varvagiannis gene: SLC1A2 was added gene: SLC1A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A2 were set to 27476654; 28777935 Phenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41 (MIM 617105) Penetrance for gene: SLC1A2 were set to Complete Review for gene: SLC1A2 was set to AMBER gene: SLC1A2 was marked as current diagnostic Added comment: Pathogenic variants in SLC1A2 cause Epileptic encephalopathy, early infantile, 41 (EIEE41 - MIM 617105). At least 4 unrelated patients each with (private) de novo variants have been reported. ID is a universal feature. This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). SLC1A2 is a probable DD gene in G2P associated with Epileptic encephalopathy. As a result this gene could possibly be included in this panel as amber or green if the phenotype is thought to be relevant (5 more EIEEs in this panel - all rated green). Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Intellectual disability v2.584 | PTRHD1 |
Konstantinos Varvagiannis gene: PTRHD1 was added gene: PTRHD1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRHD1 were set to 30398675; 27134041; 29143421; 27753167 Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability Penetrance for gene: PTRHD1 were set to Complete Review for gene: PTRHD1 was set to AMBER gene: PTRHD1 was marked as current diagnostic Added comment: 7 individuals with biallelic PTRHD1 mutations from 3 pedigrees have been reported. The phenotype in all consisted of early-onset Parkinsonism with intellectual disability (overview in Table 1 - PMID: 30398675). Jaberi et al. (PMID: 27134041) first reported on 2 sibs born to consanguineous Iranian parents. Both presented with parkinsonism with ID. After homozygosity mapping and exome sequencing, one variant in PTRHD1 (NM_001013663.1:c.155G>A or p.Cys52Tyr) as well as another variant in ADORA1 were the only candidates for the patients phenotype. At the time, the authors favored ADORA1 as the causative gene for their patients' phenotype but could not exclude pathogenicity of PTRHD1. Khodadadi et al. (PMID: 27753167) published on 2 additional sibs from Iran with a similar phenotype. These individuals - born to consanguineous parents - were homozygous for a further PTRHD1 missense variant (p.His53Tyr) which is proximal to the variant reported by Jaberi et al. This led the authors of the first publication to acknowledge that PTRHD1 was probably responsible for their patients' phenotype (PMID: 29143421). [A recent study of exome sequencing data of a Parkinson disease 1214-patient cohort failed to find any case explained by biallelic ADORA1 mutations - PMID: 27987235]. The variants reported in these 2 publications are classified as VUS in OMIM (last update : 02/23/2017). Kuipers et al. (PMID: 30398675) report on 3 additional individuals of African origin with identical phenotype. These individuals, whose parents originated from an isolated african community, were homozygous for a frameshift PTRHD1 deletion (c.169_196del or p.Ala57Argfs*26). This variant is rare in gnomAD (MAF of 0.018% overall or 0.15% in the African subpopulation). Alternative causes of PD / parkinsonism were previously excluded. The phenotype of all reported individuals is summarized in Table 1 of this article. PTRHD1 is not assocated with any phenotype in OMIM nor in G2P. This gene is included in the gene panel for ID, offered by Radboudumc. Therefore, this gene can be considered for inclusion in this panel as amber or green. [Please consider inclusion of this gene in the Parkinson Disease and Complex Parkinsonism gene panel]. Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Pituitary hormone deficiency v0.43 | CDON | Ivone Leong Classified gene: CDON as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.43 | CDON | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. CDON is confirmed to be associated with Holoprosencephaly 11 in OMIM and Gene2Phenotype. There are 2 unrelated cases of patients with holoprosencephaly with LOF CDON variants with pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.43 | CDON | Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.42 | CDON | Ivone Leong Publications for gene: CDON were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Classified gene: PNPLA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PNPLA6 is confirmed to be associated with the listed phenotypes in OMIM but not Gene2Phenotype. It is a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients diagnosed with Boucher-Neuhauser or Gordon Holmes syndromes who have LOF variants in PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.40 | PNPLA6 | Ivone Leong Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive (612020) to Boucher-Neuhauser syndrome (215470); Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.39 | PNPLA6 | Ivone Leong Publications for gene: PNPLA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.38 | GPR161 | Ivone Leong commented on gene: GPR161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.38 | GPR161 | Ivone Leong Phenotypes for gene: GPR161 were changed from No OMIM number to No OMIM number; pituitary stalk interruption syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.37 | GPR161 | Ivone Leong Publications for gene: GPR161 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.36 | ARNT2 | Ivone Leong commented on gene: ARNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.36 | ARNT2 | Ivone Leong Publications for gene: ARNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.35 | CHD7 | Ivone Leong Classified gene: CHD7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.35 | CHD7 | Ivone Leong Added comment: Comment on list classification: Promoted from red t gree. CHD7 is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM and Gene2Phenotype. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated case of patients with Hypogonadotropic hypogonadism with variants in the CHD7 gene in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.35 | CHD7 | Ivone Leong Gene: chd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.34 | TGIF1 | Ivone Leong Classified gene: TGIF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.34 | TGIF1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. TGIF1 is confirmed to be associated with Holoprosencephaly 4 in OMIM and Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with holoprosencephaly who has a missense variant in TGIF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.34 | TGIF1 | Ivone Leong Gene: tgif1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.33 | TGIF1 | Ivone Leong Publications for gene: TGIF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | TCF7L1 | Ivone Leong Classified gene: TCF7L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | TCF7L1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TCF7L1 is not associated with any phenotypes in OMIM or Gene2Phenotype. There is one study reporting a patient with septo-optic dysplasia with a missense variant in TCF7L1 who also has growth hormone deficiency. In vitro studies support that this variant reduced TCF7L1 protein function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | TCF7L1 | Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.31 | TCF7L1 | Ivone Leong Phenotypes for gene: TCF7L1 were changed from No OMIM number to No OMIM number; pituitary hormone deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.30 | TCF7L1 | Ivone Leong Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.29 | TCF7L1 | Ivone Leong Publications for gene: TCF7L1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.114 | KIF1C | Sarah Leigh Publications for gene: KIF1C were set to Dor et al. (2014) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.113 | NT5C2 | Sarah Leigh Publications for gene: NT5C2 were set to 28884889; 28327087; 29123918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.112 | NT5C2 | Sarah Leigh Publications for gene: NT5C2 were set to Novarino et al. (2014) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.111 | NT5C2 | Sarah Leigh Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45,613162 to Spasticparaplegia45, autosomal recessive 613162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.14 | KCNH2 | Sarah Leigh Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.13 | KCNH2 | Sarah Leigh Publications for gene: KCNH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.12 | KCNH2 | Sarah Leigh Mode of inheritance for gene: KCNH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.28 | SHH | Ivone Leong Classified gene: SHH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.28 | SHH | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. SHH is confirmed to be associated with Holoprosencephaly 3 in OMIM but not in Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one report where two unrelated Dutch patients with combned pituitary hormone deficiency had variants in SHH. One missense variant is predicted to be pathogenic and another variant in the 3' UTR region was shown to decrease SHH expression in in vitro tests. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.28 | SHH | Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.27 | SHH | Ivone Leong Publications for gene: SHH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.26 | PROKR2 | Ivone Leong Classified gene: PROKR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.26 | PROKR2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PROKR2 is confirmed to be associated with Hypogonadotropic hypogonadism 3 with or without anosmia in OMIM but not in Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with growth/pituitary hormone deficiency who have variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.26 | PROKR2 | Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.25 | PROKR2 | Ivone Leong Publications for gene: PROKR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.583 | CCDC47 |
Konstantinos Varvagiannis gene: CCDC47 was added gene: CCDC47 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC47 were set to 30401460 Phenotypes for gene: CCDC47 were set to Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability Penetrance for gene: CCDC47 were set to Complete Review for gene: CCDC47 was set to GREEN Added comment: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID. The patients were found to harbor the variants in compound heterozygous or more commonly in homozygous state (due to consanguinity and/or common ancestry). 4 loss-of-function variants are reported in total (using NM_020198.2 as a reference): - c.811C>T or p.(Arg271*) [consanguineous family of Turkish origin] - c.1145delT or p.(Leu382Argfs*2) [probably a founder mutation in Amish] - c.1165delT or p.(Ser389Leufs*25) - c.1189C>T or p.(Arg397*) Decreased mRNA levels in fibroblasts/lymphoblastoid cells were shown as well as absence of the protein upon Western blot using antibodies recognizing the N and C terminus (thus suggesting NMD). Localization of CCDC47 in the ER was demonstrated with perturbed Ca+2 homeostasis and signalling in the ER. Ccdc47-knockout mice present features similar to the human phenotypes eg. growth, neurological as well as heart anomalies. In mice embryonic/neonatal lethality was noted in some cases which might be associated with recurrent miscarriages reported in 3 patient families. CCDC47 is not associated with any phenotype in G2P or OMIM. As a result, this gene can be considered for inclusion in this panel as green (or amber). Sources: Literature |
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| Other rare neuromuscular disorders v0.10 | CPT2 | Ellen McDonagh Publications for gene: CPT2 were set to 16602102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.9 | CHCHD10 | Ellen McDonagh Publications for gene: CHCHD10 were set to 25428574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.8 | CACNA1S | Ellen McDonagh Publications for gene: CACNA1S were set to 28012042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.7 | ANO5 | Ellen McDonagh Publications for gene: ANO5 were set to 25929793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.6 | ACTA1 | Ellen McDonagh Publications for gene: ACTA1 were set to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.5 | ACTA1 | Ellen McDonagh Mode of inheritance for gene: ACTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | VPS33B |
Ellen McDonagh gene: VPS33B was added gene: VPS33B was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: VPS33B was set to Unknown Phenotypes for gene: VPS33B were set to vacuolar myopathy? |
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| Other rare neuromuscular disorders v0.3 | STIM2 |
Ellen McDonagh gene: STIM2 was added gene: STIM2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: STIM2 was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | PHKG1 |
Ellen McDonagh gene: PHKG1 was added gene: PHKG1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PHKG1 was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | MEG3 |
Ellen McDonagh gene: MEG3 was added gene: MEG3 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: MEG3 was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | FBP2 |
Ellen McDonagh gene: FBP2 was added gene: FBP2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: FBP2 was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | DMPK |
Ellen McDonagh Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. for gene: DMPK |
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| Other rare neuromuscular disorders v0.3 | DCTN1 |
Ellen McDonagh gene: DCTN1 was added gene: DCTN1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: DCTN1 was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | CPT1B |
Ellen McDonagh gene: CPT1B was added gene: CPT1B was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: CPT1B was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | COL4A2 |
Ellen McDonagh gene: COL4A2 was added gene: COL4A2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: COL4A2 was set to Unknown Publications for gene: COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy |
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| Other rare neuromuscular disorders v0.3 | BSCL2 |
Ellen McDonagh gene: BSCL2 was added gene: BSCL2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: BSCL2 was set to Unknown Publications for gene: BSCL2 were set to 14981520 |
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| Other rare neuromuscular disorders v0.3 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489 |
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| Other rare neuromuscular disorders v0.3 | AARS |
Ellen McDonagh gene: AARS was added gene: AARS was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: AARS was set to Unknown |
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| Other rare neuromuscular disorders v0.3 | UBA1 |
Ellen McDonagh gene: UBA1 was added gene: UBA1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: UBA1 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: UBA1 were set to PMID: 23518311 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830; Infantile Spinal Muscular Atrophy, X-Linked |
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| Other rare neuromuscular disorders v0.3 | LAMP2 |
Ellen McDonagh Added phenotypes vacuolar myopathy? for gene: LAMP2 Publications for gene LAMP2 were changed from to 12084876; 21415759 |
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| Other rare neuromuscular disorders v0.3 | LAMP2 |
Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LAMP2 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: LAMP2 were set to Danon disease |
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| Other rare neuromuscular disorders v0.3 | FHL1 |
Ellen McDonagh Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 for gene: FHL1 Publications for gene FHL1 were changed from to 7709723; 22094483 |
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| Other rare neuromuscular disorders v0.3 | FHL1 |
Ellen McDonagh gene: FHL1 was added gene: FHL1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: FHL1 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: FHL1 were set to Emery-Dreifuss muscular dystrophy |
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| Other rare neuromuscular disorders v0.3 | EMD | Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 for gene: EMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | EMD |
Ellen McDonagh gene: EMD was added gene: EMD was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: EMD 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: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked |
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| Other rare neuromuscular disorders v0.3 | DMD | Ellen McDonagh Added phenotypes Duchenne muscular dystrophy 310200; Becker muscular dystrophy for gene: DMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | DMD | Ellen McDonagh Added phenotypes Becker muscular dystrophy for gene: DMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | DMD |
Ellen McDonagh gene: DMD was added gene: DMD was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DMD 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: DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376 |
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| Other rare neuromuscular disorders v0.3 | VMA21 |
Ellen McDonagh gene: VMA21 was added gene: VMA21 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: VMA21 were set to 23315026 Phenotypes for gene: VMA21 were set to vacuolar myopathy? |
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| Other rare neuromuscular disorders v0.3 | PHKA1 |
Ellen McDonagh gene: PHKA1 was added gene: PHKA1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 27604308; 25929793; 15637709; 12825073 Phenotypes for gene: PHKA1 were set to Muscle glycogenosis |
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| Other rare neuromuscular disorders v0.3 | PGK1 |
Ellen McDonagh gene: PGK1 was added gene: PGK1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 22348148; 1547346 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency |
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| Other rare neuromuscular disorders v0.3 | MTM1 |
Ellen McDonagh gene: MTM1 was added gene: MTM1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to 8640223 Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400; X-linked myotubular myopathy |
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| Other rare neuromuscular disorders v0.3 | AR |
Ellen McDonagh gene: AR was added gene: AR was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 Mode of pathogenicity for gene: AR was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | OBSCN |
Ellen McDonagh gene: OBSCN was added gene: OBSCN was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: OBSCN was set to Unknown Publications for gene: OBSCN were set to 18477606 |
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| Other rare neuromuscular disorders v0.3 | CYP2C8 |
Ellen McDonagh gene: CYP2C8 was added gene: CYP2C8 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: CYP2C8 was set to Unknown Publications for gene: CYP2C8 were set to 15365880; 20739906 Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced |
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| Other rare neuromuscular disorders v0.3 | SNRPN |
Ellen McDonagh gene: SNRPN was added gene: SNRPN was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SNRPN was set to Other - please specifiy in evaluation comments Publications for gene: SNRPN were set to 10802660; 8723064 Phenotypes for gene: SNRPN were set to Prader-Willi syndrome |
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| Other rare neuromuscular disorders v0.3 | SMCHD1 | Ellen McDonagh Added phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | SMCHD1 |
Ellen McDonagh gene: SMCHD1 was added gene: SMCHD1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SMCHD1 was set to Other - please specifiy in evaluation comments Phenotypes for gene: SMCHD1 were set to Fascioscapulohumeral muscular dystrophy 2, digenic |
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| Other rare neuromuscular disorders v0.3 | VCP | Ellen McDonagh Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 for gene: VCP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | VCP |
Ellen McDonagh Mode of inheritance for gene VCP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 for gene: VCP Publications for gene VCP were changed from to 21684747 |
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| Other rare neuromuscular disorders v0.3 | UBQLN1 |
Ellen McDonagh gene: UBQLN1 was added gene: UBQLN1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: UBQLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBQLN1 were set to PMID: 22766032 Phenotypes for gene: UBQLN1 were set to Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease |
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| Other rare neuromuscular disorders v0.3 | SYT2 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 for gene: SYT2 Publications for gene SYT2 were changed from to 27472506 (Review); 25192047; 26519543 |
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| Other rare neuromuscular disorders v0.3 | SYT2 |
Ellen McDonagh gene: SYT2 was added gene: SYT2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Other rare neuromuscular disorders v0.3 | SYNE2 | Ellen McDonagh Added phenotypes Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 for gene: SYNE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | SYNE2 |
Ellen McDonagh gene: SYNE2 was added gene: SYNE2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNE2 were set to 17761684 Phenotypes for gene: SYNE2 were set to Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
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| Other rare neuromuscular disorders v0.3 | SQSTM1 |
Ellen McDonagh gene: SQSTM1 was added gene: SQSTM1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SQSTM1 were set to 26208961 Phenotypes for gene: SQSTM1 were set to Dystal Myopathy with rimmed vacuoles, 617158 |
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| Other rare neuromuscular disorders v0.3 | SNAP25 |
Ellen McDonagh gene: SNAP25 was added gene: SNAP25 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNAP25 were set to 25381298; 27472506 (Review) Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330 |
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| Other rare neuromuscular disorders v0.3 | SETX |
Ellen McDonagh gene: SETX was added gene: SETX was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: SETX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETX were set to 15106121 Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 |
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| Other rare neuromuscular disorders v0.3 | REEP1 |
Ellen McDonagh gene: REEP1 was added gene: REEP1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REEP1 were set to 18321925; 22703882 Phenotypes for gene: REEP1 were set to ?Neuronopathy, distal hereditary motor, type VB 614751 |
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| Other rare neuromuscular disorders v0.3 | PRKAG2 |
Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 27604308 |
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| Other rare neuromuscular disorders v0.3 | POLG2 |
Ellen McDonagh gene: POLG2 was added gene: POLG2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLG2 were set to 25929793 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
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| Other rare neuromuscular disorders v0.3 | MYOT | Ellen McDonagh Added phenotypes Myopathy, spheroid body 182920; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200 for gene: MYOT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | MYOT |
Ellen McDonagh Added phenotypes Myopathy, myofibrillar 3, 609200 for gene: MYOT Publications for gene MYOT were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 15111675 |
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| Other rare neuromuscular disorders v0.3 | MYOT |
Ellen McDonagh gene: MYOT was added gene: MYOT was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYOT were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: MYOT were set to Limb-Girdle Muscular Dystrophy, Dominant; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A, 159000 |
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| Other rare neuromuscular disorders v0.3 | MYH7 |
Ellen McDonagh Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Laing distal myopathy, 160500 for gene: MYH7 Publications for gene MYH7 were changed from 15322983 to 20301606 |
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| Other rare neuromuscular disorders v0.3 | MATR3 |
Ellen McDonagh Mode of inheritance for gene MATR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Distal Myopathy for gene: MATR3 |
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| Other rare neuromuscular disorders v0.3 | LDB3 | Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 4, 609452; Myofibrillar Myopathy, Dominant for gene: LDB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | LDB3 |
Ellen McDonagh gene: LDB3 was added gene: LDB3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDB3 were set to 15668942 Phenotypes for gene: LDB3 were set to Myopathy, myofibrillar 4, 609452 |
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| Other rare neuromuscular disorders v0.3 | KLHL9 |
Ellen McDonagh gene: KLHL9 was added gene: KLHL9 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL9 were set to 20554658 Phenotypes for gene: KLHL9 were set to distal myopathy (no OMIM number) |
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| Other rare neuromuscular disorders v0.3 | HSPB8 |
Ellen McDonagh Added phenotypes Neuropathy, distal hereditary motor, type IIA 158590 for gene: HSPB8 Publications for gene HSPB8 were changed from 26718575 to 15122253 |
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| Other rare neuromuscular disorders v0.3 | HSPB8 |
Ellen McDonagh gene: HSPB8 was added gene: HSPB8 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB8 were set to 26718575 Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy |
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| Other rare neuromuscular disorders v0.3 | HSPB3 |
Ellen McDonagh gene: HSPB3 was added gene: HSPB3 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB3 were set to 20142617 Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC 613376 |
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| Other rare neuromuscular disorders v0.3 | HSPB1 | Ellen McDonagh Publications for gene HSPB1 were changed from 27830184 to 15122254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | HSPB1 |
Ellen McDonagh gene: HSPB1 was added gene: HSPB1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB1 were set to 27830184 Phenotypes for gene: HSPB1 were set to Neuropathy, distal hereditary motor type IIB, 608634 |
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| Other rare neuromuscular disorders v0.3 | FLNC | Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 5, 609524 for gene: FLNC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | FLNC |
Ellen McDonagh Added phenotypes Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 for gene: FLNC Publications for gene FLNC were changed from 17412757; 15929027; 19050726; 22806379 to 15824355; 15929027; 21620354 |
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| Other rare neuromuscular disorders v0.3 | FLNC |
Ellen McDonagh gene: FLNC was added gene: FLNC was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 17412757; 15929027; 19050726; 22806379 Phenotypes for gene: FLNC were set to Myopathy, myofibrillar, 5 |
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| Other rare neuromuscular disorders v0.3 | FBXO38 |
Ellen McDonagh gene: FBXO38 was added gene: FBXO38 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO38 were set to 24207122 Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID 615575 |
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| Other rare neuromuscular disorders v0.3 | DYNC1H1 |
Ellen McDonagh gene: DYNC1H1 was added gene: DYNC1H1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to 22459677 Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant, AD, 158600 |
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| Other rare neuromuscular disorders v0.3 | DUX4 |
Ellen McDonagh Added phenotypes Facioscapulohumeral Muscular Dystrophy 1A for gene: DUX4 Publications for gene DUX4 were changed from to 27922500; 27841748; 27672539; 28040729; 27816329 |
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| Other rare neuromuscular disorders v0.3 | DUX4 | Ellen McDonagh Added phenotypes Facioscapulohumeral muscular dystrophy, 158900 for gene: DUX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | DUX4 |
Ellen McDonagh gene: DUX4 was added gene: DUX4 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: DUX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DUX4 were set to FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) Mode of pathogenicity for gene: DUX4 was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | DNM2 |
Ellen McDonagh Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myopathy, centronuclear, for gene: DNM2 |
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| Other rare neuromuscular disorders v0.3 | DNAJB6 |
Ellen McDonagh Mode of inheritance for gene DNAJB6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes limb-girdle muscular dystrophy type 1E, 603511 for gene: DNAJB6 |
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| Other rare neuromuscular disorders v0.3 | DMPK |
Ellen McDonagh Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene DMPK was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments Added phenotypes MYOTONIC DYSTROPHY 1 (DM1) for gene: DMPK |
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| Other rare neuromuscular disorders v0.3 | COL4A1 |
Ellen McDonagh gene: COL4A1 was added gene: COL4A1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 22037604; 28056338; 21625620 Phenotypes for gene: COL4A1 were set to walker warburg syndrome, muscle eye brain disease |
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| Other rare neuromuscular disorders v0.3 | CNBP |
Ellen McDonagh gene: CNBP was added gene: CNBP was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 Mode of pathogenicity for gene: CNBP was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | CHCHD10 |
Ellen McDonagh Mode of inheritance for gene CHCHD10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Spinal muscular atrophy, Jokela type 615048 for gene: CHCHD10 Publications for gene CHCHD10 were changed from 25193783 to 25428574 |
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| Other rare neuromuscular disorders v0.3 | BICD2 |
Ellen McDonagh gene: BICD2 was added gene: BICD2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 |
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| Other rare neuromuscular disorders v0.3 | BAG3 |
Ellen McDonagh Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes myofibrillar myopathy 6, 612954 for gene: BAG3 Publications for gene BAG3 were changed from 19085932 to 19085932; 21361913 |
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| Other rare neuromuscular disorders v0.3 | VCP |
Ellen McDonagh gene: VCP was added gene: VCP was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 |
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| Other rare neuromuscular disorders v0.3 | VAPB |
Ellen McDonagh gene: VAPB was added gene: VAPB was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAPB were set to 15372378 Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8 608627; Spinal muscular atrophy, late-onset, Finkel type 182980 |
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| Other rare neuromuscular disorders v0.3 | TRPV4 |
Ellen McDonagh gene: TRPV4 was added gene: TRPV4 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20037588, 20037586, 20037587 Phenotypes for gene: TRPV4 were set to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 |
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| Other rare neuromuscular disorders v0.3 | TPM2 |
Ellen McDonagh gene: TPM2 was added gene: TPM2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant 609285; CAP myopathy 2 609285 |
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| Other rare neuromuscular disorders v0.3 | TNNT3 |
Ellen McDonagh gene: TNNT3 was added gene: TNNT3 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNT3 were set to Arthyrogryposis, distal, type 2B 601680 |
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| Other rare neuromuscular disorders v0.3 | TNNI2 |
Ellen McDonagh gene: TNNI2 was added gene: TNNI2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNI2 were set to 16924011 Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680 |
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| Other rare neuromuscular disorders v0.3 | TMEM43 |
Ellen McDonagh gene: TMEM43 was added gene: TMEM43 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD 614302 |
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| Other rare neuromuscular disorders v0.3 | STIM1 |
Ellen McDonagh gene: STIM1 was added gene: STIM1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 23332920 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 160565 |
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| Other rare neuromuscular disorders v0.3 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233; PMID:25732997 Phenotypes for gene: SLC25A4 were set to mitochondrial myopathy |
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| Other rare neuromuscular disorders v0.3 | ORAI1 |
Ellen McDonagh gene: ORAI1 was added gene: ORAI1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ORAI1 were set to 28058752; 25227914 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 615883 |
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| Other rare neuromuscular disorders v0.3 | MYH8 |
Ellen McDonagh gene: MYH8 was added gene: MYH8 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH8 were set to 17041932 Phenotypes for gene: MYH8 were set to Trismus-pseudocamptodactyly syndrome 158300 |
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| Other rare neuromuscular disorders v0.3 | MYH7 |
Ellen McDonagh gene: MYH7 was added gene: MYH7 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to 15322983 Phenotypes for gene: MYH7 were set to Laing Distal Myopathy 160500 |
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| Other rare neuromuscular disorders v0.3 | MYH3 |
Ellen McDonagh gene: MYH3 was added gene: MYH3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 26578207; 18695058 Phenotypes for gene: MYH3 were set to Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 8 178110; Arthrogryposis, distal, type 2B 601680 |
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| Other rare neuromuscular disorders v0.3 | MYH2 |
Ellen McDonagh gene: MYH2 was added gene: MYH2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia 605637 |
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| Other rare neuromuscular disorders v0.3 | MYH14 |
Ellen McDonagh gene: MYH14 was added gene: MYH14 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH14 were set to 27875632; 21480433 Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652 |
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| Other rare neuromuscular disorders v0.3 | MYF6 |
Ellen McDonagh gene: MYF6 was added gene: MYF6 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: MYF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYF6 were set to 11053684 Phenotypes for gene: MYF6 were set to Myopathy, centronuclear, 3, 614408; Centronuclear Myopathy, Dominant |
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| Other rare neuromuscular disorders v0.3 | MTMR14 |
Ellen McDonagh gene: MTMR14 was added gene: MTMR14 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTMR14 were set to 19465920 Phenotypes for gene: MTMR14 were set to centronuclear myopathy |
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| Other rare neuromuscular disorders v0.3 | MATR3 |
Ellen McDonagh gene: MATR3 was added gene: MATR3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATR3 were set to 24686783 Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21 606070 |
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| Other rare neuromuscular disorders v0.3 | KBTBD13 |
Ellen McDonagh gene: KBTBD13 was added gene: KBTBD13 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21109227 Phenotypes for gene: KBTBD13 were set to Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273 |
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| Other rare neuromuscular disorders v0.3 | HRAS |
Ellen McDonagh gene: HRAS was added gene: HRAS was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17412879 Phenotypes for gene: HRAS were set to Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040 |
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| Other rare neuromuscular disorders v0.3 | HNRNPDL |
Ellen McDonagh gene: HNRNPDL was added gene: HNRNPDL was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPDL were set to 24647604 Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115 |
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| Other rare neuromuscular disorders v0.3 | HNRNPA1 |
Ellen McDonagh gene: HNRNPA1 was added gene: HNRNPA1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal |
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| Other rare neuromuscular disorders v0.3 | GARS |
Ellen McDonagh gene: GARS was added gene: GARS was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GARS were set to Distal Spinal Muscular Atrophy |
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| Other rare neuromuscular disorders v0.3 | FAM111B |
Ellen McDonagh gene: FAM111B was added gene: FAM111B was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM111B were set to 24268661 Phenotypes for gene: FAM111B were set to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3) |
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| Other rare neuromuscular disorders v0.3 | DNM2 |
Ellen McDonagh gene: DNM2 was added gene: DNM2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 22396310 Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150 |
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| Other rare neuromuscular disorders v0.3 | DNAJB6 | Ellen McDonagh Added phenotypes Myofibrillar Myopathy, Dominant for gene: DNAJB6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | DNAJB6 |
Ellen McDonagh gene: DNAJB6 was added gene: DNAJB6 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAJB6 were set to PubMed: 22366786 Phenotypes for gene: DNAJB6 were set to Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1E, 603511 |
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| Other rare neuromuscular disorders v0.3 | DMPK |
Ellen McDonagh gene: DMPK was added gene: DMPK was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DMPK were set to Myotonic dystrophy 1 160900 Mode of pathogenicity for gene: DMPK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | COL9A3 |
Ellen McDonagh gene: COL9A3 was added gene: COL9A3 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL9A3 were set to 10655510; 10678658 Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969 |
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| Other rare neuromuscular disorders v0.3 | CHCHD10 |
Ellen McDonagh gene: CHCHD10 was added gene: CHCHD10 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHCHD10 were set to 25193783 Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 |
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| Other rare neuromuscular disorders v0.3 | CCDC78 |
Ellen McDonagh gene: CCDC78 was added gene: CCDC78 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC78 were set to 22818856 Phenotypes for gene: CCDC78 were set to Myopathy, centronuclear, 4, 614807 |
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| Other rare neuromuscular disorders v0.3 | BAG3 |
Ellen McDonagh gene: BAG3 was added gene: BAG3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 19085932 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6, 612954 |
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| Other rare neuromuscular disorders v0.3 | NEFL |
Ellen McDonagh gene: NEFL was added gene: NEFL was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal Publications for gene: NEFL were set to 25264603 Phenotypes for gene: NEFL were set to Nemaline Myopathy |
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| Other rare neuromuscular disorders v0.3 | CASQ1 |
Ellen McDonagh gene: CASQ1 was added gene: CASQ1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal Publications for gene: CASQ1 were set to 25116801 Phenotypes for gene: CASQ1 were set to Vacuolar myopathy with CASQ1 aggregates (VMCQA) |
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| Other rare neuromuscular disorders v0.3 | MT-TL1 |
Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000 |
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| Other rare neuromuscular disorders v0.3 | TTN |
Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2J for gene: TTN Publications for gene TTN were changed from 12145747 to 12145747; 26392295 |
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| Other rare neuromuscular disorders v0.3 | TTN |
Ellen McDonagh Added phenotypes Tibial muscular dystrophy, tardive, 600334 for gene: TTN Publications for gene TTN were changed from 23975875; 28295036; 17444505 to 12145747 |
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| Other rare neuromuscular disorders v0.3 | TTN |
Ellen McDonagh gene: TTN was added gene: TTN was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TTN were set to 23975875; 28295036; 17444505 Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy 611705 |
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| Other rare neuromuscular disorders v0.3 | TPM3 |
Ellen McDonagh gene: TPM3 was added gene: TPM3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPM3 were set to 24692096 Phenotypes for gene: TPM3 were set to Myopathy, congenital, with fiber-type disproportion 255310; CAP myopathy 1 609284; Nemaline myopathy 1, autosomal dominant or recessive 609284 |
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| Other rare neuromuscular disorders v0.3 | SYNE1 | Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | SYNE1 |
Ellen McDonagh gene: SYNE1 was added gene: SYNE1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104; 19542096 Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
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| Other rare neuromuscular disorders v0.3 | SLC5A7 |
Ellen McDonagh Added phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 for gene: SLC5A7 Publications for gene SLC5A7 were changed from PMID: 23141292; PMID: 27569547; PMID: 26786006 to 23141292 |
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| Other rare neuromuscular disorders v0.3 | SLC5A7 |
Ellen McDonagh gene: SLC5A7 was added gene: SLC5A7 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC5A7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to PMID: 23141292; PMID: 27569547; PMID: 26786006 Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | SLC2A9 |
Ellen McDonagh gene: SLC2A9 was added gene: SLC2A9 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A9 were set to Hypouricemia, renal, 2 |
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| Other rare neuromuscular disorders v0.3 | RYR1 |
Ellen McDonagh Added phenotypes Malignant hyperthermia susceptibility 1 145600; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Central core disease 117000 for gene: RYR1 Publications for gene RYR1 were changed from to 26799446 |
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| Other rare neuromuscular disorders v0.3 | RYR1 | Ellen McDonagh Added phenotypes Minicore myopathy with external ophthalmoplegia; Neuromuscular disease, congenital, with uniform type 1 fiber; congenital muscular dystrophies; Central core disease for gene: RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | RYR1 |
Ellen McDonagh gene: RYR1 was added gene: RYR1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Central core disease, 117000; {Malignant hyperthermia susceptibility 1}, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 |
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| Other rare neuromuscular disorders v0.3 | RRM2B |
Ellen McDonagh gene: RRM2B was added gene: RRM2B was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 25929793 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) |
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| Other rare neuromuscular disorders v0.3 | POLG |
Ellen McDonagh gene: POLG was added gene: POLG was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450 Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) |
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| Other rare neuromuscular disorders v0.3 | PIEZO2 |
Ellen McDonagh gene: PIEZO2 was added gene: PIEZO2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Arthrogryposis |
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| Other rare neuromuscular disorders v0.3 | PABPN1 |
Ellen McDonagh gene: PABPN1 was added gene: PABPN1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy; Oculopharyngeal muscular dystrophy, 164300 |
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| Other rare neuromuscular disorders v0.3 | MYBPC1 |
Ellen McDonagh gene: MYBPC1 was added gene: MYBPC1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 20045868 Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4 614915; Arthrogryposis, distal, type 1B 614335 |
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| Other rare neuromuscular disorders v0.3 | LMNA |
Ellen McDonagh Added phenotypes Congenital fiber type disproportion myopathy for gene: LMNA Publications for gene LMNA were changed from 18551513; 15622532; 15148145 to 24642510 |
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| Other rare neuromuscular disorders v0.3 | LMNA |
Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant) for gene: LMNA Publications for gene LMNA were changed from to 18551513; 15622532; 15148145 |
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| Other rare neuromuscular disorders v0.3 | LMNA |
Ellen McDonagh gene: LMNA was added gene: LMNA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, AD, 181350; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | GNE | Ellen McDonagh Added phenotypes Nonaka myopathy for gene: GNE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | GNE |
Ellen McDonagh Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Nonaka myopathy, 605820 for gene: GNE Publications for gene GNE were changed from to 16372135 |
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| Other rare neuromuscular disorders v0.3 | DES | Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 for gene: DES | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | DES |
Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2R for gene: DES Publications for gene DES were changed from 20718792 to 23687351 |
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| Other rare neuromuscular disorders v0.3 | DES |
Ellen McDonagh gene: DES was added gene: DES was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DES were set to 20718792 Phenotypes for gene: DES were set to Myopathy, myofibrillar 1, 601419 |
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| Other rare neuromuscular disorders v0.3 | CRYAB |
Ellen McDonagh Added phenotypes Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 for gene: CRYAB Publications for gene CRYAB were changed from to 21337604 |
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| Other rare neuromuscular disorders v0.3 | CRYAB |
Ellen McDonagh gene: CRYAB was added gene: CRYAB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar 2, 608810 |
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| Other rare neuromuscular disorders v0.3 | COL6A3 | Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | COL6A3 | Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | COL6A3 |
Ellen McDonagh gene: COL6A3 was added gene: COL6A3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 15689448 Phenotypes for gene: COL6A3 were set to Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 |
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| Other rare neuromuscular disorders v0.3 | COL6A2 |
Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2 Publications for gene COL6A2 were changed from to 15689448 |
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| Other rare neuromuscular disorders v0.3 | COL6A2 | Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | COL6A2 |
Ellen McDonagh gene: COL6A2 was added gene: COL6A2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 |
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| Other rare neuromuscular disorders v0.3 | COL6A1 |
Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A1 Publications for gene COL6A1 were changed from to 23738969; 15955946; 25535305 |
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| Other rare neuromuscular disorders v0.3 | COL6A1 | Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | COL6A1 |
Ellen McDonagh gene: COL6A1 was added gene: COL6A1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 |
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| Other rare neuromuscular disorders v0.3 | COL12A1 |
Ellen McDonagh Added phenotypes Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 for gene: COL12A1 Publications for gene COL12A1 were changed from 24334604 to 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation |
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| Other rare neuromuscular disorders v0.3 | COL12A1 |
Ellen McDonagh gene: COL12A1 was added gene: COL12A1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL12A1 were set to 24334604 Phenotypes for gene: COL12A1 were set to EDS/myopathy overlap syndrome |
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| Other rare neuromuscular disorders v0.3 | CHRNE |
Ellen McDonagh gene: CHRNE was added gene: CHRNE was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNE were set to 12417530; 14719537; 24295813; 21175599; 25792100 Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive |
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| Other rare neuromuscular disorders v0.3 | CHRND |
Ellen McDonagh gene: CHRND was added gene: CHRND was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRND were set to 11435464; 11782989; 16916845 Phenotypes for gene: CHRND were set to ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive Mode of pathogenicity for gene: CHRND was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | CHRNB1 |
Ellen McDonagh gene: CHRNB1 was added gene: CHRNB1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene. Phenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive Mode of pathogenicity for gene: CHRNB1 was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | CHRNA1 |
Ellen McDonagh gene: CHRNA1 was added gene: CHRNA1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 7619526; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.; 15034283 Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive Mode of pathogenicity for gene: CHRNA1 was set to Other - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | CAV3 | Ellen McDonagh Added phenotypes Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801 for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | CAV3 | Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type IC for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | CAV3 |
Ellen McDonagh gene: CAV3 was added gene: CAV3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CAV3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type, 614321; Limb-Girdle Muscular Dystrophy, Dominant; Cardiomyopathy, familial hypertrophic, 192600; Muscular dystrophy, limb-girdle, type IC, 607801; Rippling muscle disease, 606072; Limb-girdle muscular dystrophy; Creatine phosphokinase, elevated serum, 123320 |
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| Other rare neuromuscular disorders v0.3 | CACNA1S |
Ellen McDonagh Added phenotypes congenital myopathy for gene: CACNA1S Publications for gene CACNA1S were changed from 19825159; 28011884; 25735680 to 28012042 |
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| Other rare neuromuscular disorders v0.3 | CACNA1S |
Ellen McDonagh gene: CACNA1S was added gene: CACNA1S was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to 19825159; 28011884; 25735680 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887 |
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| Other rare neuromuscular disorders v0.3 | ACTA1 |
Ellen McDonagh Added phenotypes Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine; Nemaline myopathy 3, autosomal dominant or recessive 161800 for gene: ACTA1 Publications for gene ACTA1 were changed from 22825594; 19562689 to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953 |
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| Other rare neuromuscular disorders v0.3 | ACTA1 |
Ellen McDonagh Mode of inheritance for gene ACTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Nemaline myopathy 3; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Myopathy, actin, congenital, with cores for gene: ACTA1 Publications for gene ACTA1 were changed from to 22825594; 19562689 |
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| Other rare neuromuscular disorders v0.3 | TIA1 | Ellen McDonagh Added phenotypes Welander distal myopathy, 604454 for gene: TIA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | TIA1 |
Ellen McDonagh gene: TIA1 was added gene: TIA1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TIA1 were set to 23401021 Phenotypes for gene: TIA1 were set to Welander distal myopathy, 604454 |
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| Other rare neuromuscular disorders v0.3 | ACTA1 |
Ellen McDonagh gene: ACTA1 was added gene: ACTA1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, 161800 |
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| Other rare neuromuscular disorders v0.3 | YARS2 |
Ellen McDonagh gene: YARS2 was added gene: YARS2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 24344687 Phenotypes for gene: YARS2 were set to Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 |
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| Other rare neuromuscular disorders v0.3 | VRK1 |
Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 19646678, 27281532 Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A 607596 |
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| Other rare neuromuscular disorders v0.3 | VAMP1 |
Ellen McDonagh gene: VAMP1 was added gene: VAMP1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28253535 Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 25929793 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
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| Other rare neuromuscular disorders v0.3 | TSFM |
Ellen McDonagh gene: TSFM was added gene: TSFM was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505 |
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| Other rare neuromuscular disorders v0.3 | TSEN54 |
Ellen McDonagh gene: TSEN54 was added gene: TSEN54 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to 18711368; 25929793 Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 |
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| Other rare neuromuscular disorders v0.3 | TRIP4 |
Ellen McDonagh gene: TRIP4 was added gene: TRIP4 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 26924529 Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1 616866 |
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| Other rare neuromuscular disorders v0.3 | TRIM32 |
Ellen McDonagh gene: TRIM32 was added gene: TRIM32 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | TRAPPC11 |
Ellen McDonagh Added phenotypes congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness for gene: TRAPPC11 Publications for gene TRAPPC11 were changed from 23830518; 27707803 to 26322222 |
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| Other rare neuromuscular disorders v0.3 | TRAPPC11 |
Ellen McDonagh gene: TRAPPC11 was added gene: TRAPPC11 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 27707803 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 |
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| Other rare neuromuscular disorders v0.3 | TNNT1 |
Ellen McDonagh gene: TNNT1 was added gene: TNNT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT1 were set to 25430424; 26296490 Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy |
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| Other rare neuromuscular disorders v0.3 | TMEM5 |
Ellen McDonagh gene: TMEM5 was added gene: TMEM5 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type |
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| Other rare neuromuscular disorders v0.3 | TK2 |
Ellen McDonagh gene: TK2 was added gene: TK2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 25929793 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
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| Other rare neuromuscular disorders v0.3 | TCAP |
Ellen McDonagh Added phenotypes Congenital muscular dystrophies for gene: TCAP Publications for gene TCAP were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 21530252; 23479141 |
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| Other rare neuromuscular disorders v0.3 | TCAP |
Ellen McDonagh gene: TCAP was added gene: TCAP was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 25929793 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
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| Other rare neuromuscular disorders v0.3 | STAC3 |
Ellen McDonagh gene: STAC3 was added gene: STAC3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 23736855; 28003463 Phenotypes for gene: STAC3 were set to Native American myopathy, 255995 (3) |
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| Other rare neuromuscular disorders v0.3 | SPTBN4 |
Ellen McDonagh gene: SPTBN4 was added gene: SPTBN4 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413 Phenotypes for gene: SPTBN4 were set to ?Myopathy, congenital, with neuropathy and deafness, 617519 |
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| Other rare neuromuscular disorders v0.3 | SPG11 |
Ellen McDonagh gene: SPG11 was added gene: SPG11 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 20110243 Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile 602099 |
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| Other rare neuromuscular disorders v0.3 | SPEG |
Ellen McDonagh gene: SPEG was added gene: SPEG was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to PMID 25087613 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5 615959 |
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| Other rare neuromuscular disorders v0.3 | SMN1 |
Ellen McDonagh gene: SMN1 was added gene: SMN1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMN1 were set to 7813012 Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 Mode of pathogenicity for gene: SMN1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331; 20920669 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 Mode of pathogenicity for gene: SLC52A3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | SLC52A2 |
Ellen McDonagh gene: SLC52A2 was added gene: SLC52A2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 22864630; 23243084 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 Mode of pathogenicity for gene: SLC52A2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | SLC52A1 |
Ellen McDonagh gene: SLC52A1 was added gene: SLC52A1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC52A1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Other rare neuromuscular disorders v0.3 | SLC25A42 |
Ellen McDonagh gene: SLC25A42 was added gene: SLC25A42 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 26541337 Phenotypes for gene: SLC25A42 were set to muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction |
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| Other rare neuromuscular disorders v0.3 | SLC22A5 |
Ellen McDonagh gene: SLC22A5 was added gene: SLC22A5 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 25929793 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary |
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| Other rare neuromuscular disorders v0.3 | SLC22A12 |
Ellen McDonagh gene: SLC22A12 was added gene: SLC22A12 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal |
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| Other rare neuromuscular disorders v0.3 | SLC18A3 |
Ellen McDonagh gene: SLC18A3 was added gene: SLC18A3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 27590285 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; ophthalmopleggia and apnea; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | SIL1 |
Ellen McDonagh gene: SIL1 was added gene: SIL1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 25929793 Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome |
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| Other rare neuromuscular disorders v0.3 | SIGMAR1 |
Ellen McDonagh gene: SIGMAR1 was added gene: SIGMAR1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIGMAR1 were set to 21842496 Phenotypes for gene: SIGMAR1 were set to ?Amyotrophic lateral sclerosis 16, juvenile 614373 |
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| Other rare neuromuscular disorders v0.3 | SGCG |
Ellen McDonagh gene: SGCG was added gene: SGCG was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCG were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | SGCD |
Ellen McDonagh gene: SGCD was added gene: SGCD was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCD were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | SGCB |
Ellen McDonagh gene: SGCB was added gene: SGCB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCB were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: SGCB were set to Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2E, 604286 |
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| Other rare neuromuscular disorders v0.3 | SGCA |
Ellen McDonagh gene: SGCA was added gene: SGCA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099; Limb-girdle muscular dystrophy |
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| Other rare neuromuscular disorders v0.3 | SELENON | Ellen McDonagh Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | SELENON |
Ellen McDonagh gene: SELENON was added gene: SELENON was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENON were set to 26780752; 16365872 Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310 |
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| Other rare neuromuscular disorders v0.3 | SCN4A | Ellen McDonagh Added phenotypes Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes; Myasthenic syndrome, congenital, 16, 614198 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | SCN4A |
Ellen McDonagh gene: SCN4A was added gene: SCN4A was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 26700687 Phenotypes for gene: SCN4A were set to congenital myopathy |
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| Other rare neuromuscular disorders v0.3 | RBCK1 |
Ellen McDonagh Source Expert Review Red was added to RBCK1. Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 for gene: RBCK1 Publications for gene RBCK1 were changed from to 23798481 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Other rare neuromuscular disorders v0.3 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency |
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| Other rare neuromuscular disorders v0.3 | RAPSN |
Ellen McDonagh gene: RAPSN was added gene: RAPSN was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAPSN were set to 15145336; 16945936; 11791205; 14504330 Phenotypes for gene: RAPSN were set to acute respiratory crises; Congenital Myasthenic Syndrome, Recessive; late and early onset; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | PYGM |
Ellen McDonagh gene: PYGM was added gene: PYGM was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 25929793; 16786513; 8316268 Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease |
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| Other rare neuromuscular disorders v0.3 | PUS1 |
Ellen McDonagh gene: PUS1 was added gene: PUS1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 26556812; 21686963; 25227147 Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
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| Other rare neuromuscular disorders v0.3 | PREPL |
Ellen McDonagh gene: PREPL was added gene: PREPL was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 27472506 (Review); 24610330 Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224; myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | POMT2 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 for gene: POMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | POMT1 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: POMT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | POMK |
Ellen McDonagh Added phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 for gene: POMK Publications for gene POMK were changed from to 24556084; 24925318 |
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| Other rare neuromuscular disorders v0.3 | POMK |
Ellen McDonagh gene: POMK was added gene: POMK was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
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| Other rare neuromuscular disorders v0.3 | POMGNT2 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2 Publications for gene POMGNT2 were changed from to 27066570 |
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| Other rare neuromuscular disorders v0.3 | POMGNT2 |
Ellen McDonagh gene: POMGNT2 was added gene: POMGNT2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to Walker-Warburg syndrome; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type |
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| Other rare neuromuscular disorders v0.3 | POMGNT1 | Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | POMGNT1 |
Ellen McDonagh gene: POMGNT1 was added gene: POMGNT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 |
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| Other rare neuromuscular disorders v0.3 | PNPLA2 |
Ellen McDonagh gene: PNPLA2 was added gene: PNPLA2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 21544567 Phenotypes for gene: PNPLA2 were set to Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717 |
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| Other rare neuromuscular disorders v0.3 | PLEKHG5 |
Ellen McDonagh gene: PLEKHG5 was added gene: PLEKHG5 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 17564964 Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Distal Spinal Muscular Atrophy |
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| Other rare neuromuscular disorders v0.3 | PLEC | Ellen McDonagh Added phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | PLEC |
Ellen McDonagh Added phenotypes myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS); Congenital myasthenic syndrome for gene: PLEC Publications for gene PLEC were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 10446808; 27472506 (Review); 21175599; 21263134; 25683118 |
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| Other rare neuromuscular disorders v0.3 | PLEC |
Ellen McDonagh gene: PLEC was added gene: PLEC was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: PLEC were set to Limb-girdle muscular dystrophy; Muscular dystrophy with epidermolysis bullosa simplex, 226670 |
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| Other rare neuromuscular disorders v0.3 | PHKB |
Ellen McDonagh gene: PHKB was added gene: PHKB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKB were set to 27604308 Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive |
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| Other rare neuromuscular disorders v0.3 | PGM1 |
Ellen McDonagh gene: PGM1 was added gene: PGM1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 25929793; 19625727; 22492991 Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It |
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| Other rare neuromuscular disorders v0.3 | PGAM2 |
Ellen McDonagh gene: PGAM2 was added gene: PGAM2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 25929793; 19273759; 8447317 Phenotypes for gene: PGAM2 were set to Glycogen storage disease X |
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| Other rare neuromuscular disorders v0.3 | PFKM |
Ellen McDonagh gene: PFKM was added gene: PFKM was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 25929793; 8037209; 11949936 Phenotypes for gene: PFKM were set to Glycogen storage disease VII |
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| Other rare neuromuscular disorders v0.3 | NEB |
Ellen McDonagh Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy for gene: NEB Publications for gene NEB were changed from to 12207937 |
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| Other rare neuromuscular disorders v0.3 | NEB |
Ellen McDonagh gene: NEB was added gene: NEB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy 2, 256030 |
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| Other rare neuromuscular disorders v0.3 | MYPN |
Ellen McDonagh gene: MYPN was added gene: MYPN was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYPN were set to 28220527 Phenotypes for gene: MYPN were set to Congenital cap myopathy |
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| Other rare neuromuscular disorders v0.3 | MYO9A |
Ellen McDonagh gene: MYO9A was added gene: MYO9A was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to 27259756 Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome; CMS |
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| Other rare neuromuscular disorders v0.3 | MYO18B |
Ellen McDonagh gene: MYO18B was added gene: MYO18B was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 27858739; 25748484; 27879346 Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM |
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| Other rare neuromuscular disorders v0.3 | MYMK | Ellen McDonagh Added phenotypes Carey-Fineman-Ziter syndrome for gene: MYMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | MYMK |
Ellen McDonagh gene: MYMK was added gene: MYMK was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome |
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| Other rare neuromuscular disorders v0.3 | MYL1 |
Ellen McDonagh gene: MYL1 was added gene: MYL1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 21063730 Phenotypes for gene: MYL1 were set to congenital myopathy |
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| Other rare neuromuscular disorders v0.3 | MYBPC3 |
Ellen McDonagh gene: MYBPC3 was added gene: MYBPC3 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to 19858127 Phenotypes for gene: MYBPC3 were set to myopathy and cardiomyopathy |
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| Other rare neuromuscular disorders v0.3 | MUSK |
Ellen McDonagh gene: MUSK was added gene: MUSK was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUSK were set to 16550915; 19949040; 15496425; 23326516; 24183479 Phenotypes for gene: MUSK were set to Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | MICU1 | Ellen McDonagh Added phenotypes myopathy with extrapyramidal signs for gene: MICU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | MICU1 |
Ellen McDonagh gene: MICU1 was added gene: MICU1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 24336167 Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3) |
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| Other rare neuromuscular disorders v0.3 | MEGF10 |
Ellen McDonagh gene: MEGF10 was added gene: MEGF10 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682 Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia |
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| Other rare neuromuscular disorders v0.3 | MAP3K20 |
Ellen McDonagh gene: MAP3K20 was added gene: MAP3K20 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 27816943 Phenotypes for gene: MAP3K20 were set to congenital myopathy with fibre type disproportion |
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| Other rare neuromuscular disorders v0.3 | LRP4 |
Ellen McDonagh gene: LRP4 was added gene: LRP4 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP4 were set to PMID: 24234652; PMID: 26052878 Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | LPIN1 |
Ellen McDonagh gene: LPIN1 was added gene: LPIN1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 25929793 |
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| Other rare neuromuscular disorders v0.3 | LMOD3 |
Ellen McDonagh gene: LMOD3 was added gene: LMOD3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to PMID 25250574 Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 616165 |
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| Other rare neuromuscular disorders v0.3 | LIMS2 |
Ellen McDonagh gene: LIMS2 was added gene: LIMS2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIMS2 were set to 25589244 Phenotypes for gene: LIMS2 were set to Muscular dystrophy, limb-girdle, type 2W |
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| Other rare neuromuscular disorders v0.3 | LGI4 |
Ellen McDonagh gene: LGI4 was added gene: LGI4 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI4 were set to 16341215; 28318499; 15857855 Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; Arthrogryposis Multiplex Congenita; AMCNMY |
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| Other rare neuromuscular disorders v0.3 | LDHA |
Ellen McDonagh gene: LDHA was added gene: LDHA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHA were set to 27604308; 1953713 |
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| Other rare neuromuscular disorders v0.3 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related |
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| Other rare neuromuscular disorders v0.3 | LAMB2 |
Ellen McDonagh gene: LAMB2 was added gene: LAMB2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 27472506 (Review); 19251977 Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | LAMA2 |
Ellen McDonagh gene: LAMA2 was added gene: LAMA2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855; Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 |
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| Other rare neuromuscular disorders v0.3 | KY |
Ellen McDonagh gene: KY was added gene: KY was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KY were set to 27484770 Phenotypes for gene: KY were set to congenital myopathy |
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| Other rare neuromuscular disorders v0.3 | KLHL41 |
Ellen McDonagh gene: KLHL41 was added gene: KLHL41 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL41 were set to 24268659 Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3) |
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| Other rare neuromuscular disorders v0.3 | KLHL40 |
Ellen McDonagh gene: KLHL40 was added gene: KLHL40 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 |
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| Other rare neuromuscular disorders v0.3 | ITGA7 |
Ellen McDonagh gene: ITGA7 was added gene: ITGA7 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 26076707; 9590299; 18045857 Phenotypes for gene: ITGA7 were set to Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204; Congenital Muscular Dystrophy, ITGA7-related |
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| Other rare neuromuscular disorders v0.3 | ISPD |
Ellen McDonagh Source Expert Review Red was added to ISPD. Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 for gene: ISPD Publications for gene ISPD were changed from to 23390185 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Other rare neuromuscular disorders v0.3 | ISPD |
Ellen McDonagh gene: ISPD was added gene: ISPD was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052 |
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| Other rare neuromuscular disorders v0.3 | ISCU |
Ellen McDonagh Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU Publications for gene ISCU were changed from 21165651; 22125086 to 18296749 |
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| Other rare neuromuscular disorders v0.3 | ISCU |
Ellen McDonagh gene: ISCU was added gene: ISCU was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCU were set to 21165651; 22125086 Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary |
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| Other rare neuromuscular disorders v0.3 | INPP5K |
Ellen McDonagh gene: INPP5K was added gene: INPP5K was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy |
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| Other rare neuromuscular disorders v0.3 | IGHMBP2 |
Ellen McDonagh gene: IGHMBP2 was added gene: IGHMBP2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320 Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Other rare neuromuscular disorders v0.3 | HTRA2 |
Ellen McDonagh gene: HTRA2 was added gene: HTRA2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII |
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| Other rare neuromuscular disorders v0.3 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 25929793 |
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| Other rare neuromuscular disorders v0.3 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 25929793 Phenotypes for gene: HADHA were set to Trifunctional protein deficiency |
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| Other rare neuromuscular disorders v0.3 | HACD1 |
Ellen McDonagh gene: HACD1 was added gene: HACD1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACD1 were set to 23933735 Phenotypes for gene: HACD1 were set to congenital myopathy |
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| Other rare neuromuscular disorders v0.3 | GYS1 |
Ellen McDonagh gene: GYS1 was added gene: GYS1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 27604308; 19699667; 17928598; 24579562; 21958591 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle |
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| Other rare neuromuscular disorders v0.3 | GYG1 |
Ellen McDonagh gene: GYG1 was added gene: GYG1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYG1 were set to 26652229; 26255073; 27544502; 25272951; 20357282 Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV |
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| Other rare neuromuscular disorders v0.3 | GNE |
Ellen McDonagh gene: GNE was added gene: GNE was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Nonaka myopathy 605820 |
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| Other rare neuromuscular disorders v0.3 | GMPPB |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 for gene: GMPPB Publications for gene GMPPB were changed from PMID: 27147698; PMID: 26133662 to 26133662; 23768512 |
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| Other rare neuromuscular disorders v0.3 | GMPPB | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | GMPPB |
Ellen McDonagh gene: GMPPB was added gene: GMPPB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to PMID: 27147698; PMID: 26133662 Phenotypes for gene: GMPPB were set to MDDGC14 with features of CMS; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Congenital Myasthenic Syndrome; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | GFPT1 |
Ellen McDonagh gene: GFPT1 was added gene: GFPT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 21975507; 23569079; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109 Phenotypes for gene: GFPT1 were set to Limb-girdle congenital myasthenic syndrome; Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital Myasthenic Syndrome, Recessive; tubular aggregates |
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| Other rare neuromuscular disorders v0.3 | GFER |
Ellen McDonagh gene: GFER was added gene: GFER was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 |
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| Other rare neuromuscular disorders v0.3 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 15452297; 20058079 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV |
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| Other rare neuromuscular disorders v0.3 | GAA |
Ellen McDonagh Added phenotypes Glycogen storage disease II for gene: GAA Publications for gene GAA were changed from to 25929793; 14695532; 18425781 |
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| Other rare neuromuscular disorders v0.3 | GAA |
Ellen McDonagh gene: GAA was added gene: GAA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II |
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| Other rare neuromuscular disorders v0.3 | FKTN | Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | FKTN |
Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy for gene: FKTN Publications for gene FKTN were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 25929793 |
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| Other rare neuromuscular disorders v0.3 | FKTN |
Ellen McDonagh gene: FKTN was added gene: FKTN was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Limb-girdle muscular dystrophy |
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| Other rare neuromuscular disorders v0.3 | FKRP |
Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKRP Publications for gene FKRP were changed from to http://www.ncbi.nlm.nih.gov/books/NBK1408/ |
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| Other rare neuromuscular disorders v0.3 | FKRP | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 for gene: FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | FKRP |
Ellen McDonagh gene: FKRP was added gene: FKRP was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
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| Other rare neuromuscular disorders v0.3 | FKBP14 |
Ellen McDonagh gene: FKBP14 was added gene: FKBP14 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 22265013 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, |
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| Other rare neuromuscular disorders v0.3 | EXOSC8 |
Ellen McDonagh gene: EXOSC8 was added gene: EXOSC8 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C 616081 |
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| Other rare neuromuscular disorders v0.3 | EXOSC3 |
Ellen McDonagh gene: EXOSC3 was added gene: EXOSC3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 22544365 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678 |
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| Other rare neuromuscular disorders v0.3 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 25929793 Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC |
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| Other rare neuromuscular disorders v0.3 | ETFB |
Ellen McDonagh gene: ETFB was added gene: ETFB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 25929793 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB |
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| Other rare neuromuscular disorders v0.3 | ETFA |
Ellen McDonagh gene: ETFA was added gene: ETFA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 25929793 |
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| Other rare neuromuscular disorders v0.3 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957 Phenotypes for gene: EPG5 were set to vacuolar myopathy? |
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| Other rare neuromuscular disorders v0.3 | ENO3 |
Ellen McDonagh gene: ENO3 was added gene: ENO3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENO3 were set to 25929793; 25267339; 11506403 Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII |
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| Other rare neuromuscular disorders v0.3 | ECEL1 |
Ellen McDonagh gene: ECEL1 was added gene: ECEL1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D 615065 |
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| Other rare neuromuscular disorders v0.3 | DYSF |
Ellen McDonagh Source Expert Review Red was added to DYSF. Added phenotypes Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130 for gene: DYSF Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Other rare neuromuscular disorders v0.3 | DYSF |
Ellen McDonagh Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, type 2B, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF Publications for gene DYSF were changed from 25929793 to 25821721 |
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| Other rare neuromuscular disorders v0.3 | DYSF |
Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF Publications for gene DYSF were changed from 20301480 to 25929793 |
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| Other rare neuromuscular disorders v0.3 | DYSF |
Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1, 254130 for gene: DYSF Publications for gene DYSF were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 20301480 |
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| Other rare neuromuscular disorders v0.3 | DYSF |
Ellen McDonagh gene: DYSF was added gene: DYSF was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYSF were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | DPM3 |
Ellen McDonagh gene: DPM3 was added gene: DPM3 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 19576565 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io; congenital muscular dystrophies |
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| Other rare neuromuscular disorders v0.3 | DPM2 |
Ellen McDonagh gene: DPM2 was added gene: DPM2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042 |
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| Other rare neuromuscular disorders v0.3 | DPM1 |
Ellen McDonagh gene: DPM1 was added gene: DPM1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM1 were set to congenital muscular dystrophies; Congenital disorder of glycosylation, type Ie |
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| Other rare neuromuscular disorders v0.3 | DPAGT1 |
Ellen McDonagh gene: DPAGT1 was added gene: DPAGT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 22742743; 23447650; 25500013; 23591138; 23278575 Phenotypes for gene: DPAGT1 were set to Limb girdle congenital myasthenic; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) |
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| Other rare neuromuscular disorders v0.3 | DOLK |
Ellen McDonagh gene: DOLK was added gene: DOLK was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 22242004; 17273964; 23890587 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im |
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| Other rare neuromuscular disorders v0.3 | DOK7 |
Ellen McDonagh gene: DOK7 was added gene: DOK7 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 22661499; 17452375; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.; 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300) Phenotypes for gene: DOK7 were set to Limb girdle congenital myasthenic syndrome; Myasthenia, limb-girdle, familial; Myasthenic syndrome, congenital, 10, 254300 |
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| Other rare neuromuscular disorders v0.3 | DNAJB2 |
Ellen McDonagh gene: DNAJB2 was added gene: DNAJB2 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB2 were set to 22522442 Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 |
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| Other rare neuromuscular disorders v0.3 | DAG1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 for gene: DAG1 Publications for gene DAG1 were changed from 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851 to 21388311; 25503980 |
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| Other rare neuromuscular disorders v0.3 | DAG1 |
Ellen McDonagh gene: DAG1 was added gene: DAG1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851 Phenotypes for gene: DAG1 were set to congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome |
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| Other rare neuromuscular disorders v0.3 | CPT2 |
Ellen McDonagh Added phenotypes CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110 for gene: CPT2 Publications for gene CPT2 were changed from 23911907; 25929793; 10873395 to 16602102 |
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| Other rare neuromuscular disorders v0.3 | CPT2 |
Ellen McDonagh gene: CPT2 was added gene: CPT2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 23911907; 25929793; 10873395 Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced |
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| Other rare neuromuscular disorders v0.3 | COLQ |
Ellen McDonagh gene: COLQ was added gene: COLQ was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLQ were set to 10441569; 9689136; 10665486; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 5, 603034 |
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| Other rare neuromuscular disorders v0.3 | COL13A1 |
Ellen McDonagh gene: COL13A1 was added gene: COL13A1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL13A1 were set to PMID: 26626625 Phenotypes for gene: COL13A1 were set to Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 |
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| Other rare neuromuscular disorders v0.3 | CNTN1 |
Ellen McDonagh gene: CNTN1 was added gene: CNTN1 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 19026398 Phenotypes for gene: CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540 |
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| Other rare neuromuscular disorders v0.3 | CHRNG |
Ellen McDonagh gene: CHRNG was added gene: CHRNG was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNG were set to 25411939; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).; 22167768; 8040310; 27245440; 16826531 Phenotypes for gene: CHRNG were set to escobar syndrome; Neonatal congenital myasthenia; multiple pterygium syndrome/MPS; Myasthenia gravis, neonatal transient; fetal akinesia deformation sequence syndrome/FADS |
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| Other rare neuromuscular disorders v0.3 | CHKB |
Ellen McDonagh gene: CHKB was added gene: CHKB was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541 |
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| Other rare neuromuscular disorders v0.3 | CHAT |
Ellen McDonagh gene: CHAT was added gene: CHAT was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHAT were set to 11172068; 12756141 Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210; CMS-EA; Congenital myasthenics sndrome associated with episodic apnea |
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| Other rare neuromuscular disorders v0.3 | CFL2 |
Ellen McDonagh gene: CFL2 was added gene: CFL2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to 17160903; 22560515; 24610938 Phenotypes for gene: CFL2 were set to Nemaline Myopathy, Recessive; Nemaline myopathy 7, autosomal recessive, 610687 |
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| Other rare neuromuscular disorders v0.3 | CAPN3 |
Ellen McDonagh gene: CAPN3 was added gene: CAPN3 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/ Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive |
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| Other rare neuromuscular disorders v0.3 | BVES |
Ellen McDonagh gene: BVES was added gene: BVES was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BVES were set to 26642364 Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, type 2X |
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| Other rare neuromuscular disorders v0.3 | BIN1 |
Ellen McDonagh gene: BIN1 was added gene: BIN1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200; Centronuclear Myopathy, Recessive |
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| Other rare neuromuscular disorders v0.3 | B4GAT1 |
Ellen McDonagh gene: B4GAT1 was added gene: B4GAT1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1; 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 |
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| Other rare neuromuscular disorders v0.3 | B3GALNT2 |
Ellen McDonagh gene: B3GALNT2 was added gene: B3GALNT2 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11 |
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| Other rare neuromuscular disorders v0.3 | ATP2A1 |
Ellen McDonagh gene: ATP2A1 was added gene: ATP2A1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy, 601003; Brody Myopathy |
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| Other rare neuromuscular disorders v0.3 | ASAH1 |
Ellen McDonagh gene: ASAH1 was added gene: ASAH1 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 22703880 Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 |
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| Other rare neuromuscular disorders v0.3 | ANO5 | Ellen McDonagh Added phenotypes Gnathodiaphyseal dysplasia, 166260; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 for gene: ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | ANO5 |
Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3 for gene: ANO5 Publications for gene ANO5 were changed from 20096397 to 25929793 |
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| Other rare neuromuscular disorders v0.3 | ANO5 | Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3, 613319 for gene: ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v0.3 | ANO5 |
Ellen McDonagh gene: ANO5 was added gene: ANO5 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO5 were set to 20096397 Phenotypes for gene: ANO5 were set to Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 |
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| Other rare neuromuscular disorders v0.3 | AMPD1 |
Ellen McDonagh gene: AMPD1 was added gene: AMPD1 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 15803807; 23543093; 25929793; 19258857 Phenotypes for gene: AMPD1 were set to Rhabdomyolysis |
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| Other rare neuromuscular disorders v0.3 | ALS2 |
Ellen McDonagh gene: ALS2 was added gene: ALS2 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 11586297; 20018642 Phenotypes for gene: ALS2 were set to juvenile amyotrophic lateral sclerosis-2, 205100 |
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| Other rare neuromuscular disorders v0.3 | ALG2 |
Ellen McDonagh gene: ALG2 was added gene: ALG2 was added to Neuromuscular disorders. Sources: Expert Review Amber Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to 23404334 Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 |
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| Other rare neuromuscular disorders v0.3 | ALG14 |
Ellen McDonagh gene: ALG14 was added gene: ALG14 was added to Neuromuscular disorders. Sources: Expert Review Red Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to PMID: 23404334 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | ALDOA |
Ellen McDonagh gene: ALDOA was added gene: ALDOA was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 25392908; 25929793; 8598869; 2825199; 14615364 Phenotypes for gene: ALDOA were set to Glycogen storage disease XII |
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| Other rare neuromuscular disorders v0.3 | AGRN |
Ellen McDonagh gene: AGRN was added gene: AGRN was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGRN were set to 22205389; 19631309; 24951643 Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120; Congenital myasthenic syndrome |
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| Other rare neuromuscular disorders v0.3 | AGL |
Ellen McDonagh gene: AGL was added gene: AGL was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 20648714; 25929793 Phenotypes for gene: AGL were set to Glycogen storage disease IIIa |
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| Other rare neuromuscular disorders v0.3 | ACADVL |
Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 25929793; 9973285; 8739957 Phenotypes for gene: ACADVL were set to VLCAD deficiency |
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| Other rare neuromuscular disorders v0.3 | ACADM |
Ellen McDonagh gene: ACADM was added gene: ACADM was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Rhabdomyolysis |
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| Other rare neuromuscular disorders v0.3 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Neuromuscular disorders. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to 25929793 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 |
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| COVID-19 research v0.9 |
Ellen McDonagh List of related panels changed from to Panel status changed from public to internal |
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| Early onset or syndromic epilepsy v1.1 | Sarah Leigh List of related panels changed from Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes to Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes; Epileptic encephalopathy; Familial Focal Epilepsies; Familial Genetic Generalised Epilepsies; Genetic Epilepsies with Febrile Seizures Plus (GEFS+); Genetic Epilepsies with Febrile Seizures Plus | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1591 | PAH | Eleanor Williams Marked gene: PAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1591 | PAH | Eleanor Williams Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1591 | PAH | Eleanor Williams Publications for gene: PAH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1590 | PAH | Eleanor Williams Phenotypes for gene: PAH were changed from to Phenylketonuria 261600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX15 | Sarah Leigh Marked gene: COX15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX15 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX15 | Sarah Leigh Gene: cox15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX10 | Sarah Leigh Marked gene: COX10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX10 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COX10 | Sarah Leigh Gene: cox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG8 | Sarah Leigh Marked gene: COG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG8 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG8 | Sarah Leigh Gene: cog8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG6 | Sarah Leigh Marked gene: COG6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG6 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG6 | Sarah Leigh Gene: cog6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1589 | COG6 | Sarah Leigh Publications for gene: COG6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1588 | PAH | Eleanor Williams Mode of inheritance for gene: PAH was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1587 | PAH | Eleanor Williams Classified gene: PAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1587 | PAH | Eleanor Williams Added comment: Comment on list classification: Two cases reported in recent literature of variants in PAH in patients that show Phenylketonuria with seizures. Few cases of untreated PKU since newborn screen is now routine in most countries. But many publications state that seizures are a feature of untreated PKU so rating this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1587 | PAH | Eleanor Williams Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | COG4 | Sarah Leigh Marked gene: COG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | COG4 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | COG4 | Sarah Leigh Gene: cog4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | VLDLR | Sarah Leigh Marked gene: VLDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | VLDLR |
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least two variants reported in two unrelated cases in which seizures are a phenotypic feature. PMID: 16174313 reports seizures in 5/19 cases with autosomal recessivecerebellar hypoplasiain the Hutterite population, but does not include any genetic evidence. PMID: 18326629 reports VLDLR a c.769C>T variant in Family A, where seizures are a rare ocurrance and also a deletion including VLDLR and LOC401491 in the family described in PMID: 16080122. |
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| Early onset or syndromic epilepsy v0.1586 | VLDLR | Sarah Leigh Gene: vldlr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | VLDLR | Sarah Leigh Tag watchlist tag was added to gene: VLDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | PAH | Eleanor Williams commented on gene: PAH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1586 | VLDLR | Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1585 | PTF1A | Rebecca Foulger commented on gene: PTF1A: Added watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1585 | PTF1A | Rebecca Foulger Tag watchlist tag was added to gene: PTF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1585 | PTF1A | Rebecca Foulger Classified gene: PTF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1585 | PTF1A | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Variants in PTF1A can cause Pancreatic agenesis 2, 615935 and Pancreatic and cerebellar agenesis, 609069. MIM:609069 can present with seizures, but hard to find individual cases in literature where epilepsy/seizures are recorded. Therefore Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1585 | PTF1A | Rebecca Foulger Gene: ptf1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1584 | CYP27A1 |
Sarah Leigh gene: CYP27A1 was added gene: CYP27A1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 18227423 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis 213700 Review for gene: CYP27A1 was set to RED Added comment: Not associated with phenotype in OMIM or in Gen2Phen. At least one variant in a single case in which seizures are a phenotypic feature. Sources: Literature |
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| Unexplained kidney failure in young people v1.22 | ANOS1 | Louise Daugherty Classified gene: ANOS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.22 | ANOS1 | Louise Daugherty Added comment: Comment on list classification: demoted gene from Green to Amber due to clinical review- this is not a childhood onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.22 | ANOS1 | Louise Daugherty Gene: anos1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.21 | ANOS1 | Louise Daugherty Added comment: Comment on publications: added publications recommended by clinical review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.21 | ANOS1 | Louise Daugherty Publications for gene: ANOS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1583 | PTF1A | Rebecca Foulger Mode of inheritance for gene: PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1582 | VLDLR | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1582 | VLDLR | Sarah Leigh Added comment: Comment on publications: Seizures were not evident in cases reported in PMIDs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1582 | VLDLR | Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1581 | PTF1A | Rebecca Foulger Publications for gene: PTF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1580 | PTF1A | Rebecca Foulger Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, 609069 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.583 | DHDDS | Rebecca Foulger Classified gene: DHDDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.583 | DHDDS | Rebecca Foulger Added comment: Comment on list classification: Added DHDDS to panel and rated Green: Probable DD-G2P gene for 'Epilepsy and intellectual disability' and sufficient unrelated (>3) cases of ID phenotype associated with heterozygous DHDDS variants from PMID:29100083. Plus compound het case of patient with glycosylation disorder and complex developmental phenotypes from PMID:27343064. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.583 | DHDDS | Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1579 | PSPH | Ellen McDonagh Marked gene: PSPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1579 | PSPH | Ellen McDonagh Added comment: Comment when marking as ready: Kept as Amber due to expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1579 | PSPH | Ellen McDonagh Gene: psph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1579 | PSPH | Ellen McDonagh Tag watchlist tag was added to gene: PSPH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1579 | PSPH | Ellen McDonagh Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency 614023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1578 | PSPH | Ellen McDonagh Publications for gene: PSPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1577 | PSPH | Ellen McDonagh Mode of inheritance for gene: PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1576 | KIF1A | Ellen McDonagh Marked gene: KIF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1576 | KIF1A | Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1576 | KIF1A | Ellen McDonagh Classified gene: KIF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1576 | KIF1A | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for inclusion of this gene on this panel. More than 3 unrelated cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1576 | KIF1A | Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.582 | DHDDS | Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836 to Developmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1575 | KIF1A | Ellen McDonagh Added comment: Comment on publications: PMID: 25265257 - five cases of 14 reported with de novo KIF1A variants were epileptic or had epileptic abnormalities (infantile spasms, partial complex and myoclinic seizures). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1575 | KIF1A | Ellen McDonagh Publications for gene: KIF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Marked gene: KIF2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Classified gene: KIF2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1574 | KIF2A |
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 5 unrelated patients with seizures amongst their phenotypes and heterozygous variants in KIF2A from PMIDs: 27896282, 27747449 and 23603762. |
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| Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1573 | KIF1A | Ellen McDonagh Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9 614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A: PMID:23603762 (Poirier et al., 2013) report neontal onset seizures in two patients with heterozygous KIF2A variants: patient P462 with a heterozygous variant c.961C>G, p.H321D in KIF2A, and patient p147 with a heterozygous c.950G>A (p.S317N) variant in KIF2A (supplementary Table 4). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A: 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 2 had tonic-clonic seizures and the c.962A>C (p.His321Pro) variant in KIF2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | PIGQ | Louise Daugherty Marked gene: PIGQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | PIGQ | Louise Daugherty Gene: pigq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | PIGQ | Louise Daugherty Classified gene: PIGQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | PIGQ | Louise Daugherty Added comment: Comment on list classification: changed from Red to Amber Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1572 | PIGQ | Louise Daugherty Gene: pigq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1571 | VLDLR | Sarah Leigh Added comment: Comment on publications: Seizures not evident in cases reported in PMID: 18043714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1571 | VLDLR | Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1570 | KIF1A | Ellen McDonagh Mode of inheritance for gene: KIF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1569 | PIGQ | Louise Daugherty Publications for gene: PIGQ were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1568 | PIGQ | Louise Daugherty Added comment: Comment on phenotypes: added phenotype from expert review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1568 | PIGQ | Louise Daugherty Phenotypes for gene: PIGQ were changed from BIALLELIC, autosomal or pseudoautosomal to Intractable seizures; developmental delay; optic atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1567 | NDUFA2 | Ellen McDonagh Marked gene: NDUFA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1567 | NDUFA2 | Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1567 | NDUFA2 | Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1567 | NDUFA2 | Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1567 | NDUFA2 | Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1566 | NDUFA2 | Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1566 | NDUFA2 | Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1566 | NDUFA2 | Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1565 | PIGQ | Louise Daugherty Mode of inheritance for gene: PIGQ was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1564 | PIGQ | Louise Daugherty Phenotypes for gene: PIGQ were changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1563 | NDUFA2 | Ellen McDonagh Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency 256000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1562 | NDUFA2 | Ellen McDonagh Mode of inheritance for gene: NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1561 | NDUFA2 | Ellen McDonagh Added comment: Comment on publications: PMID: 28857146 - unclear whether either of the genotyped cases displayed seizures/epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1561 | NDUFA2 | Ellen McDonagh Publications for gene: NDUFA2 were set to 28857146; 18513682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1560 | KIF2A | Rebecca Foulger Mode of inheritance for gene: KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1559 | KIF2A | Rebecca Foulger Publications for gene: KIF2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1558 | KIF2A | Rebecca Foulger Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, 615411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1557 | PIGQ | Louise Daugherty Added comment: Comment on publications: added publication suggested by external reviewer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1557 | PIGQ | Louise Daugherty Publications for gene: PIGQ were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | PIGQ | Louise Daugherty reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Marked gene: HOXA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger commented on gene: HOXA1: Added watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Tag watchlist tag was added to gene: HOXA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Classified gene: HOXA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. HOXA1 is a Confirmed DD-G2P gene for Athabaskan brainstem dysgenesis syndrome and Bosley-Salih-Alorainy syndrome; seizures are a variable feature of these HOXA1 spectrum disorders but aren't present in all affected individuals. Reported individuals so far are all from Saudi families or the Athabascan Indian population. Of the 5 BSAS or ABDS individuals summarised with seizures in PMID:18412118, it's unclear how many are related and therefore how many individual cases there are. Therefore rated Amber awaiting further clear cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1556 | HOXA1 | Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1555 | NDUFA2 | Ellen McDonagh Added comment: Comment on publications: PMID: 18513682 - the case reported developed seizures after a varicella infection, with severe acidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1555 | NDUFA2 | Ellen McDonagh Publications for gene: NDUFA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1554 | HOXA1 | Rebecca Foulger commented on gene: HOXA1: PMID:18412118 (Bosley et al 2008) report 9 new individuals from 6 families (3 consanguineous Saudi families and 3 Native American families) who have homozygous variants of HOXA1 with either the Bosley-Salih-Alorainy Syndrome (BSAS) or the Athabascan Brainstem Dysgenesis Syndrome (ABDS). Seizures were seen in 2 patients (Saudi patients B1 and C1). Patient B1 had 2 unaffected siblings and six unaffected half siblings. Patients C1-C4 came from a consanguineous extended family, and seizures weren't noted in C2-C4. The Authors provide a summary, reporting seizures in 1/16 BSAS patients and 4/13 ABDS patients (it's unclear which of these patients are related). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1554 | HOXA1 | Rebecca Foulger Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1554 | HOXA1 | Rebecca Foulger Publications for gene: HOXA1 were set to 18412118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | HOXA1 | Rebecca Foulger commented on gene: HOXA1: Holve et al., 2003 (PMID:12833395): Seizures reported in 4/10 ABDS patients, all of which are Athabascan Indian children. Genetic analysis was not performed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | SHH | Sarah Leigh Marked gene: SHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | SHH | Sarah Leigh Added comment: Comment when marking as ready: Associated with somatic variants and so not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | SHH | Sarah Leigh Gene: shh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | SHH | Sarah Leigh Classified gene: SHH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1553 | SHH | Sarah Leigh Gene: shh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1552 | NDUFS8 | Ellen McDonagh Marked gene: NDUFS8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1552 | NDUFS8 | Ellen McDonagh Gene: ndufs8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1552 | NDUFS8 | Ellen McDonagh Classified gene: NDUFS8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1552 | NDUFS8 | Ellen McDonagh Gene: ndufs8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1551 | NDUFS8 | Ellen McDonagh Added comment: Comment on mode of inheritance: Promoted to Green due to evidence of a seizures/epilepsy phenotype in two unrelated cases with variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1551 | NDUFS8 | Ellen McDonagh Mode of inheritance for gene: NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | NDUFS8 | Ellen McDonagh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | SMC1A | Sarah Leigh Marked gene: SMC1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | SMC1A | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported four unrelated cases in which seizures are a phenotypic feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | SMC1A | Sarah Leigh Gene: smc1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | NDUFS8 | Ellen McDonagh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | NDUFS8 | Ellen McDonagh commented on gene: NDUFS8: Comment on publications: PMID: 22499348 - of three patients (2 related) reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome...this patient also had a homozygous variant in NDUFS7, however the variant in NDUFS8 was attributed to the disease as their affected sister also carried this homozygous variant. She had a clinical diagnosis of Leigh syndrome, decribed with Muscular hypotonia, lactic acidosis blood and CSF, MRI lesions basal ganglia and brainstem, hypertrophic cardiomyopathy (seizures or epilepsy were not mentioned). In the other unrelated case, a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy was given, with Muscular hypotonia, respiratory insufficiency as other features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1550 | SMC1A | Sarah Leigh Publications for gene: SMC1A were set to 16604071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1549 | NDUFS8 | Ellen McDonagh Added comment: Comment on publications: PMID: 22499348 - of three patients reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome. The other two cases had a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy, and Leigh syndrome, respectively. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1549 | NDUFS8 | Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1548 | NDUFS8 | Ellen McDonagh Added comment: Comment on publications: PMID: 22499348 - of three patients reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome. The other two cases had a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy, and Leigh syndrome, respectively. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1548 | NDUFS8 | Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1547 | SMC1A | Sarah Leigh Publications for gene: SMC1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1546 | SMC1A | Sarah Leigh Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 300590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1545 | SMC1A | Sarah Leigh Mode of inheritance for gene: SMC1A 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1544 | NDUFS8 | Ellen McDonagh Added comment: Comment on publications: PMID: 9837812 - erratic seizures reported in a case who was compound heterozygous for variants in NDUFS8 "At admission, the main symptoms were mild cyanosis, severe hypercarbia, a cardiac murmur, drowsiness with absent optical and acoustical blink, eye flutter, intense hypotonia, brisk tendon reflexes with ankle clonus, and erratic seizures". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1544 | NDUFS8 | Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1543 | SLC45A1 | Sarah Leigh Marked gene: SLC45A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1543 | SLC45A1 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three homozygous variants reported in three unrelated cases, however, seizures were only a phenotypic feature in two of the unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1543 | SLC45A1 | Sarah Leigh Gene: slc45a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1543 | HOXA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by the literature (e.g. PMID:18412118) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1543 | HOXA1 | Rebecca Foulger Mode of inheritance for gene: HOXA1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1542 | HOXA1 | Rebecca Foulger Publications for gene: HOXA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1541 | HOXA1 | Rebecca Foulger commented on gene: HOXA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1541 | SLC45A1 | Sarah Leigh Tag watchlist tag was added to gene: SLC45A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1541 | NDUFS8 | Ellen McDonagh Added comment: Comment on publications: PMID: 15159508 - does not mention seizures in the case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1541 | NDUFS8 | Ellen McDonagh Publications for gene: NDUFS8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1540 | SLC45A1 | Sarah Leigh Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features 617532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1539 | SLC45A1 | Sarah Leigh Mode of inheritance for gene: SLC45A1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1538 | NDUFS8 | Ellen McDonagh Classified gene: NDUFS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1538 | NDUFS8 | Ellen McDonagh Added comment: Comment on list classification: Curated in OMIM for Leigh syndrome due to mitochondrial complex I deficiency and in Gene2Phenotype for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, which include seizures as a phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1538 | NDUFS8 | Ellen McDonagh Gene: ndufs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1537 | HOXA1 | Rebecca Foulger Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1536 | SLC45A1 | Sarah Leigh Publications for gene: SLC45A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1535 | NDUFS7 | Ellen McDonagh Marked gene: NDUFS7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1535 | NDUFS7 | Ellen McDonagh Gene: ndufs7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1535 | NDUFS7 | Ellen McDonagh Tag watchlist tag was added to gene: NDUFS7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1535 | NDUFS7 | Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1534 | NDUFS7 | Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1533 | NDUFS7 | Ellen McDonagh Publications for gene: NDUFS7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDUFS7 | Ellen McDonagh commented on gene: NDUFS7: Though variants in this gene cause Leigh syndrome, there does not seem to be enough evidence for variants in this gene to be directly attributed to seizures/epilepsy from these publications. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDUFS7 | Ellen McDonagh commented on gene: NDUFS7: PMID: 10330338 - seizures not mentioned in the patients reported with NDUFS7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | SETD1B | Sarah Leigh Marked gene: SETD1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | SETD1B | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | SETD1B | Sarah Leigh Gene: setd1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDUFS7 | Ellen McDonagh commented on gene: NDUFS7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RYR2 | Sarah Leigh Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RYR2 | Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RUSC2 | Sarah Leigh Marked gene: RUSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RUSC2 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RUSC2 | Sarah Leigh Gene: rusc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP2 | Sarah Leigh Marked gene: RAB3GAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP2 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP2 | Sarah Leigh Gene: rab3gap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP1 | Sarah Leigh Marked gene: RAB3GAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP1 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RAB3GAP1 | Sarah Leigh Gene: rab3gap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | PSAT1 | Sarah Leigh Marked gene: PSAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | PSAT1 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | PSAT1 | Sarah Leigh Gene: psat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDP | Sarah Leigh Marked gene: NDP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDP | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | NDP | Sarah Leigh Gene: ndp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MAST1 | Sarah Leigh Marked gene: MAST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MAST1 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MAST1 | Sarah Leigh Gene: mast1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MANBA | Sarah Leigh Marked gene: MANBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MANBA | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | MANBA | Sarah Leigh Gene: manba has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HPRT1 | Sarah Leigh Marked gene: HPRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HPRT1 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HPRT1 | Sarah Leigh Gene: hprt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HEXB | Sarah Leigh Marked gene: HEXB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HEXB | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | HEXB | Sarah Leigh Gene: hexb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GLI3 | Sarah Leigh Marked gene: GLI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GLI3 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GLI3 | Sarah Leigh Gene: gli3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GCSH | Sarah Leigh Classified gene: GCSH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GCSH | Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | GCSH | Sarah Leigh Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1531 | FOXRED1 | Sarah Leigh Marked gene: FOXRED1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1531 | FOXRED1 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1531 | FOXRED1 | Sarah Leigh Gene: foxred1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1531 | FIG4 | Sarah Leigh Classified gene: FIG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1531 | FIG4 | Sarah Leigh Gene: fig4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1530 | FIG4 | Sarah Leigh Classified gene: FIG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1530 | FIG4 | Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1530 | FIG4 | Sarah Leigh Gene: fig4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FIG4 | Sarah Leigh Marked gene: FIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FIG4 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FIG4 | Sarah Leigh Gene: fig4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FASTKD2 | Sarah Leigh Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FASTKD2 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | FASTKD2 | Sarah Leigh Gene: fastkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DNAJC6 | Sarah Leigh Marked gene: DNAJC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DNAJC6 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DNAJC6 | Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DPM2 | Sarah Leigh Marked gene: DPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DPM2 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | DPM2 | Sarah Leigh Gene: dpm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PDSS2 | Sarah Leigh Marked gene: PDSS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PDSS2 | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PDSS2 | Sarah Leigh Gene: pdss2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PCLO | Sarah Leigh Marked gene: PCLO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PCLO | Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | PCLO | Sarah Leigh Gene: pclo has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | NRAS | Sarah Leigh Marked gene: NRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | NRAS | Sarah Leigh Gene: nras has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | NRAS | Sarah Leigh Classified gene: NRAS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | NRAS | Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1529 | NRAS | Sarah Leigh Gene: nras has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NECAP1 | Sarah Leigh Marked gene: NECAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NECAP1 | Sarah Leigh Added comment: Comment when marking as ready: Single family reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NECAP1 | Sarah Leigh Gene: necap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | OTX2 | Sarah Leigh Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | OTX2 | Sarah Leigh Gene: otx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NDUFAF4 | Sarah Leigh Marked gene: NDUFAF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NDUFAF4 | Sarah Leigh Gene: ndufaf4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | PIGC | Sarah Leigh Marked gene: PIGC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | PIGC | Sarah Leigh Gene: pigc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1528 | NDUFAF4 | Sarah Leigh Tag watchlist tag was added to gene: NDUFAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease v1.21 | PDGFRA |
Anna de Burca gene: PDGFRA was added gene: PDGFRA was added to Adult solid tumours for rare disease. Sources: Literature Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor Penetrance for gene: PDGFRA were set to Incomplete Review for gene: PDGFRA was set to AMBER Added comment: Although GIST is predominantly associated with somatic variants in this gene, germline variants have been described in familial GIST and it is green on the sarcoma pertinent cancer susceptibility panel. Sources: Literature |
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| Intellectual disability v2.581 | DHDDS | Rebecca Foulger Added comment: Comment on mode of inheritance: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects). During his short life, the boy made little psychomotor acquisitions, had no eye contact, poor sucking with frequent regurgitations and failure to thrive. I have selected both monoallelic and biallelic MOI to cover MIM:617836 (AD) and future cases where ID presents as a symptom of a recessive glycosylation disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.581 | DHDDS | Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.80 | LZTFL1 | Eleanor Williams Classified gene: LZTFL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.80 | LZTFL1 | Eleanor Williams Added comment: Comment on list classification: Updating from red to green due to 2 unrelated cases reported plus evidence that this is a cilium protein from mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.80 | LZTFL1 | Eleanor Williams Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.580 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 29100083; 27343064 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836 Review for gene: DHDDS was set to GREEN Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). The ID phenotype of patients covers severe/moderate-to-severe ID and global developmental delay. Sources: Literature |
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| Early onset or syndromic epilepsy v0.1528 | DHDDS | Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861 to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb,613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1526 | DHDDS | Rebecca Foulger Marked gene: DHDDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1526 | DHDDS | Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1526 | DHDDS | Rebecca Foulger Classified gene: DHDDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1526 | DHDDS | Rebecca Foulger Added comment: Comment on list classification: Added gene to panel and rated green based on literature evidence (PMID:29100083) and relevant OMIM phenotype (MIM:617836). 5 unrelated heterozygous cases in PMID:29100083 plus 1 compound het case in PMID:27343064 for a patient with a glycosylation disorder including seizures. Therefore sufficient (>3) unrelated seizure cases for a diagnostic rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1526 | DHDDS | Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1525 | DHDDS | Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM (and PMID:29100083) report AD inheritance for Developmental delay and seizures with or without movement abnormalities, 617836. In addition, Sabry et al (PMID:27343064) report one individual with a glycosylation disorder (MIM:613861) and epilepsy, carrying compound heterozygous variants in DHDDS. Therefore selected 'both monoallelic and biallelic' MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1525 | DHDDS | Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1524 | DHDDS | Rebecca Foulger commented on gene: DHDDS: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency and epilepsy amongst his phenotypes. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1524 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 27343064; 29100083 Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861 Review for gene: DHDDS was set to GREEN Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). These five individuals with de novo variants in DHDDS presented with a generalized epilepsy disorder with myoclonic seizures, either as myoclonic absences or as isolated cortical myoclonus, and sometimes with light sensitivity or fever susceptibility. Two of these individuals also presented with other generalized seizure types, including atonic seizures or generalized tonic-clonic seizures. In three individuals, EEG revealed clear generalized spike-wave discharges (and additional photosensitivity in one individual). Sources: Literature |
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| Early onset or syndromic epilepsy v0.1523 | RALA | Sarah Leigh Marked gene: RALA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1523 | RALA | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least seven apparetly gain of function variants identified in eleven unrelated cases, with seizures reported in six of these cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1523 | RALA | Sarah Leigh Gene: rala has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1523 | RALA | Sarah Leigh Added comment: Comment on publications: PMID for doi.org/10.1371/journal.pgen.1007671 not yet available | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1523 | RALA | Sarah Leigh Publications for gene: RALA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.82 | RPIA |
Sarah Leigh commented on gene: RPIA: Review by Konstantinos Varvagiannis for the Genetic Epilepsy syndromes panel. 9 Dec 2018, 1:44 a.m. Panel version: 0.1488 Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611. PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T or p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG or p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548]. PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis. PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis. 2 of the 3 patients described in the literature presented seizures. As a result this gene can be considered for inclusion in this panel as amber. [This gene is also present in the Undiagnosed metabolic disorders gene panel as red. Please consider upgrade based on these further publications.]. Sources: Literature |
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| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Marked gene: NTRK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Classified gene: NTRK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Added and reviewed Green by Konstantinos Varvagiannis. Although probable rating in DD-G2P for 'Epilepsy and ID', there are sufficient unrelated cases (>3) of patients with NTRK2 variants and seizures from PMID:29100083 and PMID:15494731 (2 variants) for both EE and obesity/hyperphagia phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1521 | NTRK2 | Rebecca Foulger commented on gene: NTRK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.82 | RPIA | Sarah Leigh Publications for gene: RPIA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.81 | RPIA | Sarah Leigh Classified gene: RPIA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.81 | RPIA | Sarah Leigh Added comment: Comment on list classification: Based on additional variants reported in PMIDs 28801340; 30088433. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.81 | RPIA | Sarah Leigh Gene: rpia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.80 | RPIA | Sarah Leigh Classified gene: RPIA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.80 | RPIA | Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1521 | RALA | Sarah Leigh Classified gene: RALA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1521 | RALA | Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments and sufficient cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1521 | RALA | Sarah Leigh Gene: rala has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | RPIA | Sarah Leigh Marked gene: RPIA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | RPIA | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least five variants identified in three unrelated cases, with seizures as a phenotypic feature in two of these cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | RPIA | Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | MAST1 | Rebecca Foulger commented on gene: MAST1: Added 'watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | MAST1 | Rebecca Foulger Tag watchlist tag was added to gene: MAST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | MAST1 | Rebecca Foulger Classified gene: MAST1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | MAST1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. 6 individuals in PMID:30449657 with MAST1 variants, and seizures in 2/6 patients. DDD participant DDD4K.02310 has a synonymous variant in RXRG and a missense variant in MAST (Supplementary material of PMID:28135719). 1 individual in PMID:23934111 (Epi4K encephalopathies) had seizures- listed as benign variant from Polyphen in the paper tables. The phenotype appears complex, and MAST1 is not yet linked to epilepsy in OMIM, and is not yet on the DD-G2P list. Therefore rated as Amber awaiting further confirmed cases from the literature or clinic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1520 | MAST1 | Rebecca Foulger Gene: mast1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1519 | RPIA | Sarah Leigh Phenotypes for gene: RPIA were changed from Ribose 5-phosphate isomerase deficiency, MIM 608611 to ?Ribose 5-phosphate isomerase deficiency 608611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1518 | RPIA | Sarah Leigh Classified gene: RPIA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1518 | RPIA | Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments and number of cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1518 | RPIA | Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.361 | FANCB | Eleanor Williams commented on gene: FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1517 | TANGO2 | Sarah Leigh Publications for gene: TANGO2 were set to 29369572; 30245509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Marked gene: TANGO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three variants reported 7 unrelated cases in which seizures are a phenotypic feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's comments and sufficient evidence from the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1516 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1515 | TANGO2 | Sarah Leigh Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger Marked gene: CAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger Gene: cad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger commented on gene: CAD: Confirmed DD-G2P gene for Uridine-responsive epileptic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger Classified gene: CAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: 5 patients from 4 families in total (1 patient from PMID:25678555 and 4 more patients from 28007989) all with epileptic seizures (generalized tonic clonic seizures, severe epilepsy, generalised/focal seizures). Note that 2 of the families in PMID:28007989 were Serbian Roma descent with the same homozygous c.98T>G (Met33Arg) transversion, although listed as unrelated. Overall sufficient (>3) unrelated cases of epileptic seizures in patients with CAD variants, for inclusion on diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | CAD | Rebecca Foulger Gene: cad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | TXNRD1 | Sarah Leigh Added comment: Comment on phenotypes: Seizures, myoclonic seizures and generalized tonic-clonic seizures which disappeared progressively | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1514 | TXNRD1 | Sarah Leigh Phenotypes for gene: TXNRD1 were changed from genetic generalized epilepsy to genetic generalized epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Marked gene: TXNRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Based on single report of homozygous variants in five siblings three of whom have genetic generalized epilepsy (PMID 28232204), thus suggestive of incomplete penetrance. In vitro functional studies demonstrate the pathogenicity of the variant c.569 C>T, p.Pro190Leu, NM_182743.2, NP_877393.1. Furthermore, mouse models provide some evidence for the potential role of TXNRD1 in epilepsy, with nervous system-specific inactivation of Txnrd1 in mice resulting in ataxia, tremor and cerebellar hypoplasia. Although, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice. (PMID 18350150). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1513 | TXNRD1 | Sarah Leigh Penetrance for gene TXNRD1 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1512 | TXNRD1 | Sarah Leigh Added comment: Comment on publications: PMID 18350150 Nervous system-specific inactivation of Txnrd1 in mice led to ataxia, tremor and cerebellar hypoplasia. However, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1512 | TXNRD1 | Sarah Leigh Publications for gene: TXNRD1 were set to 28232204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1511 | TXNRD1 | Sarah Leigh Classified gene: TXNRD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1511 | TXNRD1 | Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.361 | LZTFL1 | Eleanor Williams Classified gene: LZTFL1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.361 | LZTFL1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is on the Rare multisystem ciliopathy disorders panel (v1.79) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. Currently red on cilliopathy panel but this will be reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.361 | LZTFL1 | Eleanor Williams Gene: lztfl1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1510 | TXNRD1 |
Sarah Leigh gene: TXNRD1 was added gene: TXNRD1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TXNRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNRD1 were set to 28232204 Phenotypes for gene: TXNRD1 were set to genetic generalized epilepsy Review for gene: TXNRD1 was set to AMBER Added comment: Sources: Literature |
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| Early onset or syndromic epilepsy v0.1509 | SIX3 | Sarah Leigh Added comment: Comment on publications: PMID 18791198 discusses incomplete penetrance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1509 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829; 19346217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1508 | NPRL2 | Ellen McDonagh Marked gene: NPRL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1508 | NPRL2 | Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1508 | NPRL2 | Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1508 | NPRL2 | Ellen McDonagh Added comment: Comment on list classification: At this time, as there are many unaffected family members with the variants identified in affected patients, Arianna Tucci (Genomics England Clinical Team) agrees that it is best to keep this gene amber for now, due to lack of enough evidence for a monogenic role of this gene in epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1508 | NPRL2 | Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1507 | NPRL2 | Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1507 | NPRL2 | Ellen McDonagh Added comment: Comment on list classification: Knockout mice do not seem to have a seizure phenotype: http://www.informatics.jax.org/marker/phenotypes/MGI:1914482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1507 | NPRL2 | Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | SIX3 | Sarah Leigh Marked gene: SIX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | SIX3 |
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene, however, seizures have only been reported in two cases of SIX3 variant carriers. In PMID: 20157829, patient 4 had a seizure but certain epilepsy characteristic activity in the subsequent electroencephalogram (EEG) was not met. The variants (c.618C>A + c.621G>A; p.Gly206Gly + p.Glu207Glu) were found in this case. The synonymous variant c.621G>A, was not predicted to effect splicing, although it was was predicted to create a consensus sequence motif for an additional SF2/ASF (score 2.71378; threshold 1.956) as well as SRp40 (score 2.98263; threshold 2.67) splice enhancer. Both consensus sequences are recognized by the human proteins SF2/ASF or SRp40, respectively, and are important for the recognition and utilization of regular as well as alternative splice sites (Wang et al. 2005), and these may be considered to be pathogenic. In PMID 28670735 a deletion of SIX3 gene was reported in a case with seizures, but incomplete penetrance has been suggested. The publication PMID 19346217 mentions seizures as a clinical feature, however, precise details about cases cannot be found as the supplementary material tables 1a & b are no longer available (the authors have been contacted, December 2018). |
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| Early onset or syndromic epilepsy v0.1506 | SIX3 | Sarah Leigh Gene: six3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | NPRL2 | Ellen McDonagh Tag watchlist tag was added to gene: NPRL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | NPRL2 | Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | NPRL2 | Ellen McDonagh Added comment: Comment on list classification: Four families reported (see publications), however the same variants were identified in unaffected family members, with the publications stating this is due to incomplete penetrance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | NPRL2 | Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1505 | NPRL2 |
Ellen McDonagh Source Victorian Clinical Genetics Services was removed from NPRL2. Source Expert Review was added to NPRL2. Penetrance for gene NPRL2 was set from to None |
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| Early onset or syndromic epilepsy v0.1504 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1503 | NPRL2 | Ellen McDonagh Mode of inheritance for gene: NPRL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1502 | NPRL2 | Ellen McDonagh Publications for gene: NPRL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1501 | NPRL2 | Ellen McDonagh Phenotypes for gene: NPRL2 were changed from to Epilepsy, familial focal, with variable foci 2 617116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1500 | NGLY1 | Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1500 | NGLY1 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1500 | NGLY1 | Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1499 | NGLY1 | Ellen McDonagh Marked gene: NGLY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1499 | NGLY1 | Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1499 | NGLY1 | Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1499 | NGLY1 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1499 | NGLY1 | Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1498 | NGLY1 | Ellen McDonagh Added comment: Comment on publications: PMID: 24651605 - 4 out of 8 patients with deficiency of N-glycanase 1 had seizures as a clinical feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1498 | NGLY1 | Ellen McDonagh Publications for gene: NGLY1 were set to 22581936; 24651605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1496 | NGLY1 | Ellen McDonagh Added comment: Comment on publications: PMID: 22581936 - describes a male patient with developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, absent tears. Sequencing revealed a frameshift variant inherited from his mother and a nonsense mutation from his father. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1496 | NGLY1 | Ellen McDonagh Publications for gene: NGLY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1495 | NGLY1 | Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1493 | NGLY1 | Ellen McDonagh Classified gene: NGLY1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1493 | NGLY1 | Ellen McDonagh Added comment: Comment on list classification: This is a Green gene on the Congenital disorders of glycosylation (Version 1.20) gene panel, with more than 4 families/cases with Congenital disorder of deglycosylation reported with variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1493 | NGLY1 | Ellen McDonagh Gene: ngly1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1492 | NGLY1 | Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation 615273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZSWIM6 | Rebecca Foulger commented on gene: ZSWIM6: DDG2P rating in original PAGE list: Probable for ACROMELIC FRONTONASAL DYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZNF750 | Rebecca Foulger reviewed gene: ZNF750: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZNF711 | Rebecca Foulger reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZNF462 | Rebecca Foulger reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZNF423 | Rebecca Foulger reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZMYND11 | Rebecca Foulger reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZMYND10 | Rebecca Foulger reviewed gene: ZMYND10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZMPSTE24 | Rebecca Foulger reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZIC3 | Rebecca Foulger commented on gene: ZIC3: DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, and Confirmed for HETEROTAXY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZIC2 | Rebecca Foulger reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZIC1 | Rebecca Foulger commented on gene: ZIC1: DDG2P rating in original PAGE list: Confirmed for CRANIOSYNOSTOSIS 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZFYVE26 | Rebecca Foulger reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZFP57 | Rebecca Foulger reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZEB2 | Rebecca Foulger reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZDHHC9 | Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZC4H2 | Rebecca Foulger commented on gene: ZC4H2: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZBTB20 | Rebecca Foulger commented on gene: ZBTB20: DDG2P rating in original PAGE list: Confirmed for PRIMROSE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZBTB18 | Rebecca Foulger reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | YY1 | Rebecca Foulger commented on gene: YY1: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | YWHAG | Rebecca Foulger commented on gene: YWHAG: DDG2P rating in original PAGE list: Probable for Early-Onset Epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | YAP1 | Rebecca Foulger reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | XYLT2 | Rebecca Foulger reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | XYLT1 | Rebecca Foulger reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | XRCC4 | Rebecca Foulger reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | XPC | Rebecca Foulger reviewed gene: XPC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | XPA | Rebecca Foulger reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WWOX | Rebecca Foulger commented on gene: WWOX: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 and Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WT1 | Rebecca Foulger commented on gene: WT1: DDG2P rating in original PAGE list: Confirmed for DENYS-DRASH SYNDROME and Confirmed for FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WRAP53 | Rebecca Foulger commented on gene: WRAP53: DDG2P rating in original PAGE list: Confirmed for DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT7A | Rebecca Foulger commented on gene: WNT7A: DDG2P rating in original PAGE list: Confirmed for FUHRMANN SYNDROME and Confirmed for LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT5A | Rebecca Foulger commented on gene: WNT5A: DDG2P rating in original PAGE list: Confirmed for WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT4 | Rebecca Foulger commented on gene: WNT4: DDG2P rating in original PAGE list: Probable for SERKAL SYNDROME and Probable for MULLERIAN APLASIA AND HYPERANDROGENISM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT3 | Rebecca Foulger reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT10B | Rebecca Foulger reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT1 | Rebecca Foulger reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR73 | Rebecca Foulger reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR62 | Rebecca Foulger reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR60 | Rebecca Foulger reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR45 | Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR35 | Rebecca Foulger reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR34 | Rebecca Foulger commented on gene: WDR34: DDG2P rating in original PAGE list: Confirmed for SHORT-RIB POLYDACTYLY SYNDROME TYPE III and Confirmed for SEVERE ASPHYXIATING THORACIC DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR26 | Rebecca Foulger reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR19 | Rebecca Foulger commented on gene: WDR19: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA 4 and Confirmed for ASPHYXIATING THORACIC DYSTROPHY 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDR11 | Rebecca Foulger commented on gene: WDR11: DDG2P rating in original PAGE list: Confirmed for KALLMANN SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WDPCP | Rebecca Foulger reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WASHC5 | Rebecca Foulger reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WAC | Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VSX2 | Rebecca Foulger commented on gene: VSX2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VRK1 | Rebecca Foulger reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VPS53 | Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VPS33B | Rebecca Foulger reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VPS13B | Rebecca Foulger reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VLDLR | Rebecca Foulger reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VIPAS39 | Rebecca Foulger reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | VDR | Rebecca Foulger reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UVSSA | Rebecca Foulger reviewed gene: UVSSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | USP9X | Rebecca Foulger commented on gene: USP9X: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 99 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | USP27X | Rebecca Foulger reviewed gene: USP27X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | USP18 | Rebecca Foulger reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | USB1 | Rebecca Foulger reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UROS | Rebecca Foulger reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UROC1 | Rebecca Foulger commented on gene: UROC1: DDG2P rating in original PAGE list: Confirmed for UROCANASE DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UQCRQ | Rebecca Foulger commented on gene: UQCRQ: DDG2P rating in original PAGE list: Probable for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UQCRB | Rebecca Foulger reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UPF3B | Rebecca Foulger reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UNC80 | Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UMPS | Rebecca Foulger reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UGT1A1 | Rebecca Foulger reviewed gene: UGT1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBTF | Rebecca Foulger commented on gene: UBTF: DDG2P rating in original PAGE list: Probable for Childhood-Onset Neurodegeneration | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBR1 | Rebecca Foulger reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBE3B | Rebecca Foulger reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBE3A | Rebecca Foulger commented on gene: UBE3A: DDG2P rating in original PAGE list: Confirmed for ANGELMAN SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBE2T | Rebecca Foulger reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBE2A | Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBA5 | Rebecca Foulger reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UBA1 | Rebecca Foulger reviewed gene: UBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TXNL4A | Rebecca Foulger reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TWIST1 | Rebecca Foulger reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUSC3 | Rebecca Foulger reviewed gene: TUSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUFM | Rebecca Foulger commented on gene: TUFM: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBGCP6 | Rebecca Foulger reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBGCP4 | Rebecca Foulger reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBG1 | Rebecca Foulger commented on gene: TUBG1: DDG2P rating in original PAGE list: Probable for Posteriorly predominant pachygyria and severe microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBB4A | Rebecca Foulger commented on gene: TUBB4A: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBB3 | Rebecca Foulger commented on gene: TUBB3: DDG2P rating in original PAGE list: Probable for CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES and Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBB2B | Rebecca Foulger commented on gene: TUBB2B: DDG2P rating in original PAGE list: Confirmed for POLYMICROGYRIA ASYMMETRIC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBB2A | Rebecca Foulger commented on gene: TUBB2A: DDG2P rating in original PAGE list: Confirmed for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBB | Rebecca Foulger commented on gene: TUBB: DDG2P rating in original PAGE list: Confirmed for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 and Confirmed for Circumferential Skin Creases Kunze Type. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBA8 | Rebecca Foulger reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TUBA1A | Rebecca Foulger commented on gene: TUBA1A: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY and Confirmed for LISSENCEPHALY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTI2 | Rebecca Foulger commented on gene: TTI2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC8 | Rebecca Foulger commented on gene: TTC8: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA TYPE 51 and Confirmed for BARDET-BIEDL SYNDROME TYPE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC7A | Rebecca Foulger reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC37 | Rebecca Foulger reviewed gene: TTC37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC25 | Rebecca Foulger reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC21B | Rebecca Foulger reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TTC19 | Rebecca Foulger reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSPAN7 | Rebecca Foulger reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSHR | Rebecca Foulger commented on gene: TSHR: DDG2P rating in original PAGE list: Confirmed for HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 and Confirmed for HYPERTHYROIDISM, FAMILIAL GESTATIONAL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSHB | Rebecca Foulger reviewed gene: TSHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSEN54 | Rebecca Foulger reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSEN34 | Rebecca Foulger commented on gene: TSEN34: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSEN2 | Rebecca Foulger commented on gene: TSEN2: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSEN15 | Rebecca Foulger commented on gene: TSEN15: DDG2P rating in original PAGE list: Probable for Pontocerebellar Hypoplasia and Progressive Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSC2 | Rebecca Foulger reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TSC1 | Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRPV4 | Rebecca Foulger commented on gene: TRPV4: DDG2P rating in original PAGE list: Confirmed for SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE and Confirmed for METATROPIC DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRPV3 | Rebecca Foulger commented on gene: TRPV3: DDG2P rating in original PAGE list: Probable for OLMSTED SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRPS1 | Rebecca Foulger reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRPM1 | Rebecca Foulger reviewed gene: TRPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRMT10C | Rebecca Foulger commented on gene: TRMT10C: DDG2P rating in original PAGE list: Probable for Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIP4 | Rebecca Foulger reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIP13 | Rebecca Foulger reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIP12 | Rebecca Foulger reviewed gene: TRIP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIP11 | Rebecca Foulger reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIO | Rebecca Foulger commented on gene: TRIO: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIM37 | Rebecca Foulger reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 11 and Confirmed for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TREX1 | Rebecca Foulger reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRAPPC9 | Rebecca Foulger reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRAPPC2 | Rebecca Foulger reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRAPPC12 | Rebecca Foulger edited their review of gene: TRAPPC12: Added comment: DDG2P rating in original PAGE list: Probable for Progressive Childhood Encephalopathy and Golgi Dysfunction; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRAPPC11 | Rebecca Foulger reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRAIP | Rebecca Foulger reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TPP1 | Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TPM3 | Rebecca Foulger reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TPM2 | Rebecca Foulger commented on gene: TPM2: DDG2P rating in original PAGE list: Probable for ARTHROGRYPOSIS, DISTAL, TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TP63 | Rebecca Foulger commented on gene: TP63: DDG2P rating in original PAGE list: Confirmed for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Confirmed for SPLIT-HAND/FOOT MALFORMATION TYPE 4, Confirmed for ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Confirmed for NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, Confirmed for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Confirmed for ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME and Confirmed for LIMB-MAMMARY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TOE1 | Rebecca Foulger reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TNXB | Rebecca Foulger reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TNNT1 | Rebecca Foulger reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TNNI2 | Rebecca Foulger reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TNFRSF13B | Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TNFRSF11B | Rebecca Foulger reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMTC3 | Rebecca Foulger reviewed gene: TMTC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMPRSS6 | Rebecca Foulger reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM70 | Rebecca Foulger reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM67 | Rebecca Foulger commented on gene: TMEM67: DDG2P rating in original PAGE list: Confirmed for COACH SYNDROM, Confirmed for MECKEL SYNDROME TYPE 3, Confirmed for JOUBERT SYNDROME TYPE 6 and Confirmed for NEPHRONOPHTHISIS TYPE 11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM260 | Rebecca Foulger reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM237 | Rebecca Foulger reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM231 | Rebecca Foulger reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM216 | Rebecca Foulger commented on gene: TMEM216: DDG2P rating in original PAGE list: Probable for JOUBERT SYNDROME 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM165 | Rebecca Foulger reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM138 | Rebecca Foulger reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM126B | Rebecca Foulger reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMCO1 | Rebecca Foulger reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TKT | Rebecca Foulger reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TK2 | Rebecca Foulger commented on gene: TK2: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TINF2 | Rebecca Foulger reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | THRA | Rebecca Foulger reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | THOC6 | Rebecca Foulger reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | THOC2 | Rebecca Foulger commented on gene: THOC2: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TH | Rebecca Foulger reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGM1 | Rebecca Foulger reviewed gene: TGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGIF1 | Rebecca Foulger reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGFBR2 | Rebecca Foulger reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGFBR1 | Rebecca Foulger commented on gene: TGFBR1: DDG2P rating in original PAGE list: Confirmed for LOEYS-DIETZ SYNDROME TYPE 2A, Confirmed for LOEYS-DIETZ SYNDROME TYPE 1A, and Confirmed for AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGFB3 | Rebecca Foulger reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGFB1 | Rebecca Foulger commented on gene: TGFB1: DDG2P rating in original PAGE list: Confirmed for CAMURATI-ENGELMANN DISEASE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TGDS | Rebecca Foulger reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TFAP2B | Rebecca Foulger commented on gene: TFAP2B: DDG2P rating in original PAGE list: Confirmed for CHAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TFAP2A | Rebecca Foulger commented on gene: TFAP2A: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOCULOFACIAL SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TERT | Rebecca Foulger commented on gene: TERT: DDG2P rating in original PAGE list: Confirmed for Dyskeratosis congenita, autosomal recessive 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TELO2 | Rebecca Foulger commented on gene: TELO2: DDG2P rating in original PAGE list: Probable for TELO2 Syndromic Intellectual Disability Disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TEK | Rebecca Foulger commented on gene: TEK: DDG2P rating in original PAGE list: Confirmed for VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TECPR2 | Rebecca Foulger reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCTN3 | Rebecca Foulger reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCTN2 | Rebecca Foulger reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCOF1 | Rebecca Foulger reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCN2 | Rebecca Foulger reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCIRG1 | Rebecca Foulger reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCF4 | Rebecca Foulger reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCF20 | Rebecca Foulger reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCF12 | Rebecca Foulger reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBXAS1 | Rebecca Foulger commented on gene: TBXAS1: DDG2P rating in original PAGE list: Confirmed for GHOSAL HEMATODIAPHYSEAL SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX6 | Rebecca Foulger reviewed gene: TBX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX5 | Rebecca Foulger reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX4 | Rebecca Foulger reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX3 | Rebecca Foulger reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX22 | Rebecca Foulger reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX20 | Rebecca Foulger reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX18 | Rebecca Foulger reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX15 | Rebecca Foulger reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX1 | Rebecca Foulger reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBR1 | Rebecca Foulger reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBL1XR1 | Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBCK | Rebecca Foulger reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBCD | Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBC1D24 | Rebecca Foulger commented on gene: TBC1D24: DDG2P rating in original PAGE list: Confirmed for NON SYNDROMAL HEARING LOSS, Confirmed for MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, and Confirmed for DOORS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBC1D23 | Rebecca Foulger reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAZ | Rebecca Foulger reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAT | Rebecca Foulger reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAPT1 | Rebecca Foulger reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TANGO2 | Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAF13 | Rebecca Foulger commented on gene: TAF13: DDG2P rating in original PAGE list: Probable for Autosomal-Recessive Intellectual Disability and Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAF1 | Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TACR3 | Rebecca Foulger commented on gene: TACR3: DDG2P rating in original PAGE list: Probable for HYPOGONADOTROPIC HYPOGONADISM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TACO1 | Rebecca Foulger reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAC3 | Rebecca Foulger commented on gene: TAC3: DDG2P rating in original PAGE list: Probable for HYPOGONADOTROPIC HYPOGONADISM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TAB2 | Rebecca Foulger commented on gene: TAB2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SZT2 | Rebecca Foulger reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SYP | Rebecca Foulger reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SYNGAP1 | Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SYN1 | Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SURF1 | Rebecca Foulger reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SUMF1 | Rebecca Foulger reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SUCLG1 | Rebecca Foulger reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STXBP1 | Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STX1B | Rebecca Foulger reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STS | Rebecca Foulger reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STRA6 | Rebecca Foulger reviewed gene: STRA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STIL | Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAT5B | Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAT1 | Rebecca Foulger commented on gene: STAT1: DDG2P rating in original PAGE list: Confirmed for STAT1 DEFICIENCY COMPLETE, Confirmed for MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE and Confirmed for FAMILIAL CANDIDIASIS TYPE 7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAR | Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAMBP | Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAG1 | Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ST3GAL5 | Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ST3GAL3 | Rebecca Foulger commented on gene: ST3GAL3: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ST14 | Rebecca Foulger commented on gene: ST14: DDG2P rating in original PAGE list: Probable for ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRY | Rebecca Foulger reviewed gene: SRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRP54 | Rebecca Foulger commented on gene: SRP54: DDG2P rating in original PAGE list: Probable for Syndromic neutropenia with Shwachman-Diamond-like features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRD5A3 | Rebecca Foulger reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRD5A2 | Rebecca Foulger reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRCAP | Rebecca Foulger commented on gene: SRCAP: DDG2P rating in original PAGE list: Confirmed for FLOATING-HARBOR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPTAN1 | Rebecca Foulger commented on gene: SPTAN1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPRY4 | Rebecca Foulger commented on gene: SPRY4: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPRED1 | Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPR | Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPG11 | Rebecca Foulger reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPEG | Rebecca Foulger reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPECC1L | Rebecca Foulger commented on gene: SPECC1L: DDG2P rating in original PAGE list: Probable for FACIAL CLEFTING, OBLIQUE, 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPATA5 | Rebecca Foulger reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPARC | Rebecca Foulger commented on gene: SPARC: DDG2P rating in original PAGE list: Probable for OSTEOGENESIS IMPERFECTA, TYPE XVII | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SPAG1 | Rebecca Foulger reviewed gene: SPAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SP110 | Rebecca Foulger reviewed gene: SP110: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX9 | Rebecca Foulger commented on gene: SOX9: DDG2P rating in original PAGE list: Confirmed for PIERRE ROBIN SEQUENCE and Confirmed for CAMPOMELIC DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX5 | Rebecca Foulger reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX3 | Rebecca Foulger commented on gene: SOX3: DDG2P rating in original PAGE list: Confirmed for SEX REVERSAL TYPE 3 and Confirmed for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX2 | Rebecca Foulger reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX17 | Rebecca Foulger commented on gene: SOX17: DDG2P rating in original PAGE list: Confirmed for VESICOURETERAL REFLUX TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX11 | Rebecca Foulger commented on gene: SOX11: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOX10 | Rebecca Foulger commented on gene: SOX10: DDG2P rating in original PAGE list: Confirmed for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, Confirmed for YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, Confirmed for WAARDENBURG SYNDROME TYPE 2E, Confirmed for KALLMANN SYNDROME WITH DEAFNESS and Confirmed for WAARDENBURG SYNDROME TYPE 4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOST | Rebecca Foulger reviewed gene: SOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOS1 | Rebecca Foulger commented on gene: SOS1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SON | Rebecca Foulger reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SNX14 | Rebecca Foulger reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SNRPE | Rebecca Foulger commented on gene: SNRPE: DDG2P rating in original PAGE list: Probable for AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SNRPB | Rebecca Foulger reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SNAP29 | Rebecca Foulger reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SNAP25 | Rebecca Foulger commented on gene: SNAP25: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMS | Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMPD1 | Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMOC2 | Rebecca Foulger reviewed gene: SMOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMOC1 | Rebecca Foulger reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMO | Rebecca Foulger commented on gene: SMO: DDG2P rating in original PAGE list: Confirmed for Curry-Jones Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMN1 | Rebecca Foulger reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMG9 | Rebecca Foulger reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMC3 | Rebecca Foulger commented on gene: SMC3: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE SYNDROME TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMC1A | Rebecca Foulger commented on gene: SMC1A: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE SYNDROME TYPE 2 and Confirmed for EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMARCE1 | Rebecca Foulger commented on gene: SMARCE1: DDG2P rating in original PAGE list: Probable for COFFIN SIRIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMARCB1 | Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMARCAL1 | Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMARCA4 | Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMARCA2 | Rebecca Foulger commented on gene: SMARCA2: DDG2P rating in original PAGE list: Confirmed for COFFIN SIRIS and Confirmed for NICOLAIDES-BARAITSER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMAD3 | Rebecca Foulger reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLX4 | Rebecca Foulger reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC9A6 | Rebecca Foulger reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A9 | Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A8 | Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A5 | Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A3 | Rebecca Foulger reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A17 | Rebecca Foulger commented on gene: SLC6A17: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC6A1 | Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC5A7 | Rebecca Foulger commented on gene: SLC5A7: DDG2P rating in original PAGE list: Probable for Congenital Myasthenic Syndrome with Episodic Apnea | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC5A5 | Rebecca Foulger reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC52A3 | Rebecca Foulger reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC4A4 | Rebecca Foulger reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC46A1 | Rebecca Foulger reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC45A1 | Rebecca Foulger commented on gene: SLC45A1: DDG2P rating in original PAGE list: Probable for Intellectual disability and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC39A8 | Rebecca Foulger commented on gene: SLC39A8: DDG2P rating in original PAGE list: Confirmed for Intellectual Disability with Cerebellar Atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC39A13 | Rebecca Foulger commented on gene: SLC39A13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION and Confirmed for EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC37A4 | Rebecca Foulger reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC35D1 | Rebecca Foulger reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC35C1 | Rebecca Foulger reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC35A2 | Rebecca Foulger reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC35A1 | Rebecca Foulger reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC33A1 | Rebecca Foulger reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC2A2 | Rebecca Foulger reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC2A10 | Rebecca Foulger reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC2A1 | Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC27A4 | Rebecca Foulger reviewed gene: SLC27A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC26A3 | Rebecca Foulger reviewed gene: SLC26A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC26A2 | Rebecca Foulger commented on gene: SLC26A2: DDG2P rating in original PAGE list: Confirmed for ACHONDROGENESIS TYPE 1B, Confirmed for ATELOSTEOGENESIS TYPE 2, Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, and Confirmed for DIASTROPHIC DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A4 | Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A38 | Rebecca Foulger reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A26 | Rebecca Foulger reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A24 | Rebecca Foulger commented on gene: SLC25A24: DDG2P rating in original PAGE list: Confirmed for Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A22 | Rebecca Foulger commented on gene: SLC25A22: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A20 | Rebecca Foulger reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A19 | Rebecca Foulger commented on gene: SLC25A19: DDG2P rating in original PAGE list: Probable for AMISH LETHAL MICROCEPHALY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC25A15 | Rebecca Foulger reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC24A4 | Rebecca Foulger reviewed gene: SLC24A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC22A5 | Rebecca Foulger reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC1A2 | Rebecca Foulger commented on gene: SLC1A2: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC19A3 | Rebecca Foulger reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC17A5 | Rebecca Foulger reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC16A2 | Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC13A5 | Rebecca Foulger reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC12A6 | Rebecca Foulger reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SLC12A1 | Rebecca Foulger reviewed gene: SLC12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SKIV2L | Rebecca Foulger reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SKI | Rebecca Foulger commented on gene: SKI: DDG2P rating in original PAGE list: Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIX5 | Rebecca Foulger commented on gene: SIX5: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOTORENAL SYNDROME TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIX3 | Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIX1 | Rebecca Foulger commented on gene: SIX1: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOTIC SYNDROME TYPE 3 and Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIN3A | Rebecca Foulger reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIL1 | Rebecca Foulger reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SIK1 | Rebecca Foulger commented on gene: SIK1: DDG2P rating in original PAGE list: Confirmed for NEONATAL EPILEPSY SPECTRUM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHROOM3 | Rebecca Foulger reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHOX | Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHOC2 | Rebecca Foulger commented on gene: SHOC2: DDG2P rating in original PAGE list: Confirmed for NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHH | Rebecca Foulger commented on gene: SHH: DDG2P rating in original PAGE list: Confirmed for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, Confirmed for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and Confirmed for HOLOPROSENCEPHALY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHANK3 | Rebecca Foulger reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHANK2 | Rebecca Foulger reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SHANK1 | Rebecca Foulger reviewed gene: SHANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SH3PXD2B | Rebecca Foulger reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SGSH | Rebecca Foulger reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SGCA | Rebecca Foulger reviewed gene: SGCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SF3B4 | Rebecca Foulger reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SETD5 | Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SETD2 | Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SETD1A | Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SETBP1 | Rebecca Foulger commented on gene: SETBP1: DDG2P rating in original PAGE list: Confirmed for SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME and Confirmed for DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SET | Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SELENON | Rebecca Foulger reviewed gene: SELENON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SECISBP2 | Rebecca Foulger reviewed gene: SECISBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SEC24D | Rebecca Foulger reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SEC23B | Rebecca Foulger reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SDHAF1 | Rebecca Foulger commented on gene: SDHAF1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX II DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SDHA | Rebecca Foulger commented on gene: SDHA: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SDCCAG8 | Rebecca Foulger reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCYL1 | Rebecca Foulger reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCO2 | Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCO1 | Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN8A | Rebecca Foulger commented on gene: SCN8A: DDG2P rating in original PAGE list: Confirmed for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA and Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN4A | Rebecca Foulger commented on gene: SCN4A: DDG2P rating in original PAGE list: Confirmed for HYPOKALEMIC PERIODIC PARALYSIS, Confirmed for HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 and Confirmed for PARAMYOTONIA CONGENITA OF VON EULENBURG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN3A | Rebecca Foulger commented on gene: SCN3A: DDG2P rating in original PAGE list: Probable for Focal epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN2A | Rebecca Foulger commented on gene: SCN2A: DDG2P rating in original PAGE list: Confirmed for NONSPECIFIC SEVERE ID, Confirmed for BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES and Confirmed for INFANTILE EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN1B | Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN1A | Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN11A | Rebecca Foulger commented on gene: SCN11A: DDG2P rating in original PAGE list: Confirmed for CONGENITAL INABILITY TO EXPERIENCE PAIN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCARF2 | Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SC5D | Rebecca Foulger commented on gene: SC5D: DDG2P rating in original PAGE list: Confirmed for LATHOSTEROLOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SBDS | Rebecca Foulger reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SATB2 | Rebecca Foulger reviewed gene: SATB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SASS6 | Rebecca Foulger commented on gene: SASS6: DDG2P rating in original PAGE list: Probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SAMHD1 | Rebecca Foulger reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SALL4 | Rebecca Foulger reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SALL1 | Rebecca Foulger reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SACS | Rebecca Foulger reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RYR1 | Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TMEM5 | Rebecca Foulger commented on gene: TMEM5: DDG2P rating in original PAGE list: Confirmed for SEVERE COBBLESTONE LISSENCEPHALY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RUNX2 | Rebecca Foulger reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RTTN | Rebecca Foulger commented on gene: RTTN: DDG2P rating in original PAGE list: Confirmed for BILATERAL DIFFUSE POLYMICROGYRIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RTN4IP1 | Rebecca Foulger reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RTEL1 | Rebecca Foulger reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPRY1 | Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPO4 | Rebecca Foulger reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPH9 | Rebecca Foulger reviewed gene: RSPH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPH4A | Rebecca Foulger reviewed gene: RSPH4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPH3 | Rebecca Foulger reviewed gene: RSPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RSPH1 | Rebecca Foulger reviewed gene: RSPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RRAS | Rebecca Foulger commented on gene: RRAS: DDG2P rating in original PAGE list: Probable for ATYPICAL NOONAN SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS6KA3 | Rebecca Foulger commented on gene: RPS6KA3: DDG2P rating in original PAGE list: Confirmed for COFFIN-LOWRY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS26 | Rebecca Foulger reviewed gene: RPS26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS24 | Rebecca Foulger reviewed gene: RPS24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS23 | Rebecca Foulger commented on gene: RPS23: DDG2P rating in original PAGE list: Probable for Microcephaly, hearing loss, and dysmorphic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS19 | Rebecca Foulger reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS17 | Rebecca Foulger reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPS10 | Rebecca Foulger reviewed gene: RPS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPL5 | Rebecca Foulger reviewed gene: RPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPL35A | Rebecca Foulger reviewed gene: RPL35A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPL11 | Rebecca Foulger commented on gene: RPL11: DDG2P rating in original PAGE list: Confirmed for Diamond-Blackfan anemia with cleft palate and abnormal thumbs. Confirmed for Diamond-Blackfan anemia 7 612562 from Additional Gene list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPGRIP1L | Rebecca Foulger reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPGRIP1 | Rebecca Foulger commented on gene: RPGRIP1: DDG2P rating in original PAGE list: Confirmed for LEBER CONGENITAL AMAUROSIS 6 and Confirmed for CONE-ROD DYSTROPHY 13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RPE65 | Rebecca Foulger reviewed gene: RPE65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RORA | Rebecca Foulger reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ROR2 | Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ROGDI | Rebecca Foulger reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ROBO1 | Rebecca Foulger reviewed gene: ROBO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RNU4ATAC | Rebecca Foulger commented on gene: RNU4ATAC: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RNASET2 | Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RNASEH2C | Rebecca Foulger reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RNASEH2B | Rebecca Foulger reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RNASEH2A | Rebecca Foulger reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RMRP | Rebecca Foulger reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RMND1 | Rebecca Foulger commented on gene: RMND1: DDG2P rating in original PAGE list: Probable for ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RLIM | Rebecca Foulger commented on gene: RLIM: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RIT1 | Rebecca Foulger commented on gene: RIT1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RIPK4 | Rebecca Foulger reviewed gene: RIPK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RIN2 | Rebecca Foulger reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RFX6 | Rebecca Foulger reviewed gene: RFX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RFT1 | Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RETREG1 | Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RERE | Rebecca Foulger reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | REN | Rebecca Foulger reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RELN | Rebecca Foulger reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RBPJ | Rebecca Foulger commented on gene: RBPJ: DDG2P rating in original PAGE list: Probable for ADAMS OLIVER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RBM8A | Rebecca Foulger reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RBM10 | Rebecca Foulger reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAX | Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RASA1 | Rebecca Foulger reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RARS2 | Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RARB | Rebecca Foulger commented on gene: RARB: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA and Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAPSN | Rebecca Foulger reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAI1 | Rebecca Foulger reviewed gene: RAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAF1 | Rebecca Foulger commented on gene: RAF1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAD51C | Rebecca Foulger commented on gene: RAD51C: DDG2P rating in original PAGE list: Probable for FANCONI ANEMIA, COMPLEMENTATION GROUP 0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAD51 | Rebecca Foulger reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAD21 | Rebecca Foulger reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAC1 | Rebecca Foulger commented on gene: RAC1: DDG2P rating in original PAGE list: Probable for Developmental Disorders with Diverse Phenotypes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB3GAP2 | Rebecca Foulger reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB3GAP1 | Rebecca Foulger reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB39B | Rebecca Foulger reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB23 | Rebecca Foulger reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB18 | Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB11B | Rebecca Foulger commented on gene: RAB11B: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RAB11A | Rebecca Foulger commented on gene: RAB11A: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | QRICH1 | Rebecca Foulger reviewed gene: QRICH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | QDPR | Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | QARS | Rebecca Foulger commented on gene: QARS: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PYROXD1 | Rebecca Foulger reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PYGL | Rebecca Foulger reviewed gene: PYGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PYCR2 | Rebecca Foulger commented on gene: PYCR2: DDG2P rating in original PAGE list: Probable for POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PYCR1 | Rebecca Foulger reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PXDN | Rebecca Foulger reviewed gene: PXDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PURA | Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PUF60 | Rebecca Foulger reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTS | Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTPN14 | Rebecca Foulger reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTPN11 | Rebecca Foulger commented on gene: PTPN11: DDG2P rating in original PAGE list: Confirmed for LEOPARD SYNDROME TYPE 1 and Confirmed for NOONAN SYNDROME 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTHLH | Rebecca Foulger commented on gene: PTHLH: DDG2P rating in original PAGE list: Confirmed for CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, and Confirmed for BRACHYDACTYLY, TYPE E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTH1R | Rebecca Foulger commented on gene: PTH1R: DDG2P rating in original PAGE list: Confirmed for PRIMARY FAILURE OF TOOTH ERUPTION, Confirmed for JANSEN METAPHYSEAL CHONDRODYSPLASIA, Confirmed for EIKEN SKELETAL DYSPLASIA, and Confirmed for CHONDRODYSPLASIA BLOMSTRAND TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTH | Rebecca Foulger reviewed gene: PTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTF1A | Rebecca Foulger commented on gene: PTF1A: DDG2P rating in original PAGE list: Confirmed for DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS and Confirmed for PANCREATIC AGENESIS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTEN | Rebecca Foulger commented on gene: PTEN: DDG2P rating in original PAGE list: Confirmed for BANNAYAN-ZONANA SYNDROME, Confirmed for COWDEN DISEASE, Confirmed for VACTERL ASSOCIATION WITH HYDROCEPHALUS, Confirmed for LHERMITTE-DUCLOS DISEASE, Confirmed for PROTEUS SYNDROME and Confirmed for MACROCEPHALY/AUTISM SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTDSS1 | Rebecca Foulger commented on gene: PTDSS1: DDG2P rating in original PAGE list: Confirmed for LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTCHD1 | Rebecca Foulger reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTCH1 | Rebecca Foulger commented on gene: PTCH1: DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY-7 and Confirmed for BASAL CELL NEVUS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PSPH | Rebecca Foulger commented on gene: PSPH: DDG2P rating in original PAGE list: Confirmed for PHOSPHOSERINE PHOSPHATASE DEFICIENCY and Confirmed for NEU-LAXOVA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PSMB8 | Rebecca Foulger commented on gene: PSMB8: DDG2P rating in original PAGE list: Confirmed for NAKAJO SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PSAT1 | Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PSAP | Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRX | Rebecca Foulger reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRUNE1 | Rebecca Foulger reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRSS56 | Rebecca Foulger reviewed gene: PRSS56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRSS12 | Rebecca Foulger reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRRT2 | Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRPS1 | Rebecca Foulger commented on gene: PRPS1: DDG2P rating in original PAGE list: Confirmed for CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, Confirmed for DEAFNESS X-LINKED TYPE 1, Confirmed for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY and Confirmed for ARTS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PROP1 | Rebecca Foulger reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PROKR2 | Rebecca Foulger commented on gene: PROKR2: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PROK2 | Rebecca Foulger reviewed gene: PROK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRMT7 | Rebecca Foulger reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRKD1 | Rebecca Foulger commented on gene: PRKD1: DDG2P rating in original PAGE list: Confirmed for Syndromic congenital heart defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRKAR1A | Rebecca Foulger commented on gene: PRKAR1A: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRG4 | Rebecca Foulger reviewed gene: PRG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PREPL | Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRDM12 | Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PQBP1 | Rebecca Foulger reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPT1 | Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPP3CA | Rebecca Foulger commented on gene: PPP3CA: DDG2P rating in original PAGE list: Probable for Severe Neurodevelopmental Disease with Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPP2R5D | Rebecca Foulger commented on gene: PPP2R5D: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPP2R1A | Rebecca Foulger commented on gene: PPP2R1A: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPP1CB | Rebecca Foulger commented on gene: PPP1CB: DDG2P rating in original PAGE list: Confirmed for Rasopathy with developmental delay, short stature and sparse slow-growing hair | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPM1D | Rebecca Foulger reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPIB | Rebecca Foulger reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PPA2 | Rebecca Foulger commented on gene: PPA2: DDG2P rating in original PAGE list: Confirmed for Sudden arrhythmic cardiac death after infectious or alcohol trigger | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POU1F1 | Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PORCN | Rebecca Foulger reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POR | Rebecca Foulger reviewed gene: POR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POMT2 | Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POMT1 | Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POMK | Rebecca Foulger reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POMGNT2 | Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POMGNT1 | Rebecca Foulger commented on gene: POMGNT1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3, Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3, and Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLR3B | Rebecca Foulger commented on gene: POLR3B: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLR3A | Rebecca Foulger reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLR1D | Rebecca Foulger reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLR1C | Rebecca Foulger reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLR1A | Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POLG | Rebecca Foulger commented on gene: POLG: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL DNA DEPLETION SYNDROME 4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POGZ | Rebecca Foulger reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POC1B | Rebecca Foulger reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | POC1A | Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PNPT1 | Rebecca Foulger commented on gene: PNPT1: DDG2P rating in original PAGE list: Confirmed for RESPIRATORY CHAIN DISORDER and Confirmed for HEARING LOSS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PNPLA1 | Rebecca Foulger commented on gene: PNPLA1: DDG2P rating in original PAGE list: Probable for CONGENITAL ICHTHYOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PNKP | Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PMS2 | Rebecca Foulger reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PMP22 | Rebecca Foulger reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PMM2 | Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLPBP | Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLP1 | Rebecca Foulger commented on gene: PLP1: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY HYPOMYELINATING TYPE 1 and Confirmed for SPASTIC PARAPLEGIA X-LINKED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLOD2 | Rebecca Foulger reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLOD1 | Rebecca Foulger reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLK4 | Rebecca Foulger reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLCE1 | Rebecca Foulger reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLCB4 | Rebecca Foulger commented on gene: PLCB4: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLCB1 | Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLAA | Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PKLR | Rebecca Foulger reviewed gene: PKLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PKHD1 | Rebecca Foulger reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PKD2 | Rebecca Foulger reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PKD1L1 | Rebecca Foulger reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PKD1 | Rebecca Foulger reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PITX3 | Rebecca Foulger commented on gene: PITX3: DDG2P rating in original PAGE list: Confirmed for CATARACT POSTERIOR POLAR TYPE 4, Confirmed for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and Confirmed for CATARACT AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PITX2 | Rebecca Foulger commented on gene: PITX2: DDG2P rating in original PAGE list: Confirmed for IRIDOGONIODYSGENESIS TYPE 2, Confirmed for RING DERMOID OF CORNEA, Confirmed for AXENFELD-RIEGER SYNDROME TYPE 1, Confirmed for PETERS ANOMALY, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PITX1 | Rebecca Foulger commented on gene: PITX1: DDG2P rating in original PAGE list: Probable for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS and Probable for CONGENITAL CLUBFOOT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIK3R2 | Rebecca Foulger commented on gene: PIK3R2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIK3R1 | Rebecca Foulger commented on gene: PIK3R1: DDG2P rating in original PAGE list: Confirmed for SHORT SYNDROME and Confirmed for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: DDG2P rating in original PAGE list: Confirmed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, Confirmed for HEMIMEGALENCEPHALY PIK3CA and Confirmed for MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGY | Rebecca Foulger commented on gene: PIGY: DDG2P rating in original PAGE list: Probable for Glycosylphosphatidylinositol deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGV | Rebecca Foulger commented on gene: PIGV: DDG2P rating in original PAGE list: Confirmed for HYPERPHOSPHATASIA WITH MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGT | Rebecca Foulger commented on gene: PIGT: DDG2P rating in original PAGE list: Confirmed for MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGO | Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGN | Rebecca Foulger commented on gene: PIGN: DDG2P rating in original PAGE list: Probable for MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGL | Rebecca Foulger reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGG | Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIGA | Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIEZO2 | Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHOX2B | Rebecca Foulger commented on gene: PHOX2B: DDG2P rating in original PAGE list: Confirmed for CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE and Confirmed for NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHIP | Rebecca Foulger reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHGDH | Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHF8 | Rebecca Foulger reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHF6 | Rebecca Foulger reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHF21A | Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGM3 | Rebecca Foulger reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGM1 | Rebecca Foulger reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGK1 | Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGAP3 | Rebecca Foulger reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGAP2 | Rebecca Foulger commented on gene: PGAP2: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PGAP1 | Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX7 | Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX6 | Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX5 | Rebecca Foulger reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX3 | Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX26 | Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX2 | Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX19 | Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX16 | Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX14 | Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX13 | Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX12 | Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX11B | Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX10 | Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX1 | Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PET100 | Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEPD | Rebecca Foulger reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDSS2 | Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDSS1 | Rebecca Foulger commented on gene: PDSS1: DDG2P rating in original PAGE list: Probable for COENZYME Q10 DEFICIENCY, PRIMARY, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDHX | Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDHA1 | Rebecca Foulger commented on gene: PDHA1: DDG2P rating in original PAGE list: Confirmed for X-LINKED LEIGH SYNDROME, Confirmed for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, and Confirmed for INTELLECTUAL DISABILTIY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDGFRB | Rebecca Foulger commented on gene: PDGFRB: DDG2P rating in original PAGE list: Confirmed for FAMILIAL INFANTILE MYOFIBROMATOSIS and Confirmed for PREMATURE AGING SYNDROME, PENTTINEN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDE6H | Rebecca Foulger commented on gene: PDE6H: DDG2P rating in original PAGE list: Probable for ACHROMATOPSIA and Probable for RETINAL CONE DYSTROPHY 3 PDE6H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDE6G | Rebecca Foulger reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDE4D | Rebecca Foulger commented on gene: PDE4D: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDE10A | Rebecca Foulger commented on gene: PDE10A: DDG2P rating in original PAGE list: Probable for Childhood-Onset Chorea with Bilateral Striatal Lesions | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCYT1A | Rebecca Foulger reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCNT | Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DUSBILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCDH19 | Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCCB | Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCCA | Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PCBD1 | Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C2orf71 | Rebecca Foulger commented on gene: C2orf71: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA 54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PC | Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX9 | Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX8 | Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX6 | Rebecca Foulger commented on gene: PAX6: DDG2P rating in original PAGE list: Confirmed for KERATITIS HEREDITARY, Confirmed for COLOBOMA OF OPTIC NERVE, Confirmed for PETERS ANOMALY, Confirmed for FOVEAL HYPOPLASIA, Confirmed for BILATERAL OPTIC NERVE HYPOPLASIA, Confirmed for ANIRIDIA and Confirmed for ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX2 | Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PARN | Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAPSS2 | Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PALB2 | Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAK3 | Rebecca Foulger commented on gene: PAK3: DDG2P rating in original PAGE list: Confirmed for AGENESIS OF THE CORPUS CALLOSUM and Confirmed for MENTAL RETARDATION X-LINKED TYPE 30. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAH | Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAFAH1B1 | Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PACS1 | Rebecca Foulger commented on gene: PACS1: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | P4HB | Rebecca Foulger commented on gene: P4HB: DDG2P rating in original PAGE list: Probable for COLE-CARPENTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | P3H1 | Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OXCT1 | Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OTX2 | Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OTULIN | Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OTUD6B | Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OTOGL | Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OTC | Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OSTM1 | Rebecca Foulger reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OSGEP | Rebecca Foulger commented on gene: OSGEP: DDG2P rating in original PAGE list: Probable for Nephrotic syndrome with primary microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ORC6 | Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ORC4 | Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ORC1 | Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OPHN1 | Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OFD1 | Rebecca Foulger commented on gene: OFD1: DDG2P rating in original PAGE list: Confirmed for ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, Confirmed for SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 and Confirmed for JOUBERT SYNDROME TYPE 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C4orf26 | Rebecca Foulger commented on gene: C4orf26: DDG2P rating in original PAGE list: Confirmed for AMYELOGENESIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OCRL | Rebecca Foulger commented on gene: OCRL: DDG2P rating in original PAGE list: Confirmed for LOWE OCULOCEREBRORENAL SYNDROME and Confirmed for DENT DISEASE TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OCLN | Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OBSL1 | Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NYX | Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NUS1 | Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NUP62 | Rebecca Foulger commented on gene: NUP62: DDG2P rating in original PAGE list: Probable for INFANTILE STRIATONIGRAL DEGENERATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NUP107 | Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NUBPL | Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NTRK2 | Rebecca Foulger commented on gene: NTRK2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NTRK1 | Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NT5C3A | Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NT5C2 | Rebecca Foulger reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NSUN2 | Rebecca Foulger commented on gene: NSUN2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NSMF | Rebecca Foulger commented on gene: NSMF: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NSDHL | Rebecca Foulger commented on gene: NSDHL: DDG2P rating in original PAGE list: Confirmed for CK SYNDROME and Confirmed for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NSD1 | Rebecca Foulger commented on gene: NSD1: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME, Confirmed for BECKWITH-WIEDEMANN SYNDROME, and Confirmed for SOTOS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NRXN2 | Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NRAS | Rebecca Foulger commented on gene: NRAS: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NR2F2 | Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NR2F1 | Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NR0B1 | Rebecca Foulger reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPR2 | Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPHS2 | Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPHS1 | Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPHP4 | Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPHP3 | Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPHP1 | Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPC2 | Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NPC1 | Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NOVA2 | Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NOTCH2 | Rebecca Foulger commented on gene: NOTCH2: DDG2P rating in original PAGE list: Confirmed for HAJDU-CHENEY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NOTCH1 | Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NONO | Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NOG | Rebecca Foulger commented on gene: NOG: DDG2P rating in original PAGE list: Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NODAL | Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NMNAT1 | Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NKX6-2 | Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NKX3-2 | Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NKX2-5 | Rebecca Foulger commented on gene: NKX2-5: DDG2P rating in original PAGE list: Confirmed for ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, Confirmed for TETRALOGY OF FALLOT, and Confirmed for CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NKX2-1 | Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NIPBL | Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NHS | Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NHP2 | Rebecca Foulger commented on gene: NHP2: DDG2P rating in original PAGE list: Probable for DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NHEJ1 | Rebecca Foulger reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NGLY1 | Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NFU1 | Rebecca Foulger commented on gene: NFU1: DDG2P rating in original PAGE list: Confirmed for MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NFIX | Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NF1 | Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEXMIF | Rebecca Foulger commented on gene: NEXMIF: DDG2P rating in original PAGE list: Probable for KIAA2022, and Probable for Intellectual disability and epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEU1 | Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEK9 | Rebecca Foulger reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEK8 | Rebecca Foulger commented on gene: NEK8: DDG2P rating in original PAGE list: Probable for NEPHRONOPHTHISIS 9 and Probable for RENAL-HEPATIC-PANCREATIC DYSPLASIA 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEK1 | Rebecca Foulger commented on gene: NEK1: DDG2P rating in original PAGE list: Confirmed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEDD4L | Rebecca Foulger commented on gene: NEDD4L: DDG2P rating in original PAGE list: Probable for Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NECTIN4 | Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NEB | Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFV1 | Rebecca Foulger commented on gene: NDUFV1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX I DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFS8 | Rebecca Foulger commented on gene: NDUFS8: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFS7 | Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFS4 | Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFS1 | Rebecca Foulger commented on gene: NDUFS1: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFB11 | Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFAF2 | Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFA10 | Rebecca Foulger commented on gene: NDUFA10: DDG2P rating in original PAGE list: Probable for LEIGH SYNDROME DUP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDUFA1 | Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDP | Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NDE1 | Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NBN | Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NBAS | Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAXE | Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NANS | Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NALCN | Rebecca Foulger commented on gene: NALCN: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, Confirmed for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, and Confirmed for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAGS | Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAGLU | Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAGA | Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NACC1 | Rebecca Foulger commented on gene: NACC1: DDG2P rating in original PAGE list: Confirmed for Infantile Epilepsy, Cataracts, and Profound Developmental Delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAA15 | Rebecca Foulger reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NAA10 | Rebecca Foulger commented on gene: NAA10: DDG2P rating in original PAGE list: Confirmed for NONPECIFIC SEVERE ID, OGDEN SYNDROME, Confirmed for X-linked anophthalmia syndrome, and Confirmed for X-linked anophthalmia syndrome/Lenz. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYT1L | Rebecca Foulger reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYT1 | Rebecca Foulger commented on gene: MYT1: DDG2P rating in original PAGE list: Probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYO5B | Rebecca Foulger reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYO5A | Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYLK | Rebecca Foulger reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYH9 | Rebecca Foulger commented on gene: MYH9: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 17, Confirmed for SEBASTIAN SYNDROME, Confirmed for MAY-HEGGLIN ANOMALY, Confirmed for EPSTEIN SYNDROME, Confirmed for FECHTNER SYNDROME, and Confirmed for MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYH3 | Rebecca Foulger commented on gene: MYH3: DDG2P rating in original PAGE list: Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B and Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYCN | Rebecca Foulger reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MYBPC1 | Rebecca Foulger reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MUT | Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MUSK | Rebecca Foulger reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MT-TP | Rebecca Foulger reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTRR | Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTR | Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTOR | Rebecca Foulger commented on gene: MTOR: DDG2P rating in original PAGE list: Confirmed for Smith-Kingsmore syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTO1 | Rebecca Foulger reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTM1 | Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MTHFR | Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSX2 | Rebecca Foulger commented on gene: MSX2: DDG2P rating in original PAGE list: Confirmed for ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM and Confirmed for CRANIOSYNOSTOSIS, TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSX1 | Rebecca Foulger reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSL3 | Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSH6 | Rebecca Foulger reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MSH2 | Rebecca Foulger reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MRPS34 | Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MRPS22 | Rebecca Foulger commented on gene: MRPS22: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MRE11 | Rebecca Foulger reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MPZ | Rebecca Foulger reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MPV17 | Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MPLKIP | Rebecca Foulger reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MPI | Rebecca Foulger reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MPDU1 | Rebecca Foulger reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MOGS | Rebecca Foulger commented on gene: MOGS: DDG2P rating in original PAGE list: Probable for CONGENITAL DISORDERS OF GLYCOSYLATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MOCS2 | Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MOCS1 | Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MNX1 | Rebecca Foulger reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMP21 | Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMP13 | Rebecca Foulger commented on gene: MMP13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE and Confirmed for METAPHYSEAL ANADYSPLASIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMADHC | Rebecca Foulger reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMACHC | Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMAB | Rebecca Foulger reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MMAA | Rebecca Foulger reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MLYCD | Rebecca Foulger reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MLH1 | Rebecca Foulger reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MLC1 | Rebecca Foulger reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MKS1 | Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MKKS | Rebecca Foulger reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MIR17HG | Rebecca Foulger reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MID1 | Rebecca Foulger reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MICU1 | Rebecca Foulger reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MGP | Rebecca Foulger reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MGAT2 | Rebecca Foulger reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MFSD8 | Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MFSD2A | Rebecca Foulger commented on gene: MFSD2A: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MFRP | Rebecca Foulger reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MESP2 | Rebecca Foulger reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MEOX1 | Rebecca Foulger reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MEGF8 | Rebecca Foulger reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MEGF10 | Rebecca Foulger reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MEF2C | Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MED17 | Rebecca Foulger commented on gene: MED17: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MED13L | Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MED12 | Rebecca Foulger commented on gene: MED12: DDG2P rating in original PAGE list: Confirmed for OPITZ-KAVEGGIA SYNDROME and Confirmed for LUJAN-FRYNS SYNDROME, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MECR | Rebecca Foulger reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MECP2 | Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MECOM | Rebecca Foulger commented on gene: MECOM: DDG2P rating in original PAGE list: Probable for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MDH2 | Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MCPH1 | Rebecca Foulger reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MCOLN1 | Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MCEE | Rebecca Foulger reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MCCC2 | Rebecca Foulger reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MCCC1 | Rebecca Foulger reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MC2R | Rebecca Foulger reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MBTPS2 | Rebecca Foulger reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MBOAT7 | Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MATN3 | Rebecca Foulger commented on gene: MATN3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAT1A | Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MASP1 | Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAPRE2 | Rebecca Foulger commented on gene: MAPRE2: DDG2P rating in original PAGE list: Confirmed for Circumferential Skin Creases Kunze Type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAP3K7 | Rebecca Foulger commented on gene: MAP3K7: DDG2P rating in original PAGE list: Probable for Cardiospondylocarpofacial syndrome and Probable for FRONTOMETAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAP3K1 | Rebecca Foulger reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAP2K2 | Rebecca Foulger commented on gene: MAP2K2: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAP2K1 | Rebecca Foulger commented on gene: MAP2K1: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAOA | Rebecca Foulger commented on gene: MAOA: DDG2P rating in original PAGE list: Probable for BRUNNER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MANBA | Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAN2B1 | Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAN1B1 | Rebecca Foulger commented on gene: MAN1B1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAMLD1 | Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAF | Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MAB21L2 | Rebecca Foulger commented on gene: MAB21L2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA, SYNDROMIC 14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LZTFL1 | Rebecca Foulger reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LYST | Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LTBP4 | Rebecca Foulger reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LTBP3 | Rebecca Foulger reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LTBP2 | Rebecca Foulger reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRRC6 | Rebecca Foulger reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRPPRC | Rebecca Foulger reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRP5 | Rebecca Foulger commented on gene: LRP5: DDG2P rating in original PAGE list: Confirmed for HIGH BONE MASS TRAIT, Confirmed for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, Confirmed for ENDOSTEAL HYPEROSTOSIS WORTH TYPE, Confirmed for VITREORETINOPATHY EXUDATIVE TYPE 4 and Confirmed for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRP4 | Rebecca Foulger reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRP2 | Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRIT3 | Rebecca Foulger reviewed gene: LRIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRIG2 | Rebecca Foulger reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRBA | Rebecca Foulger reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LRAT | Rebecca Foulger reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LONP1 | Rebecca Foulger commented on gene: LONP1: DDG2P rating in original PAGE list: Probable for CODAS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LMX1B | Rebecca Foulger reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LMOD3 | Rebecca Foulger reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LMBRD1 | Rebecca Foulger reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LMBR1 | Rebecca Foulger reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIPT2 | Rebecca Foulger commented on gene: LIPT2: DDG2P rating in original PAGE list: Probable for Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIPT1 | Rebecca Foulger commented on gene: LIPT1: DDG2P rating in original PAGE list: Probable for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIPN | Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LINS1 | Rebecca Foulger reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIG4 | Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIFR | Rebecca Foulger reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIAS | Rebecca Foulger commented on gene: LIAS: DDG2P rating in original PAGE list: Probable for Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LHX4 | Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LHX3 | Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LGI4 | Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LFNG | Rebecca Foulger commented on gene: LFNG: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LEMD3 | Rebecca Foulger reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LBR | Rebecca Foulger reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LARS2 | Rebecca Foulger commented on gene: LARS2: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LARP7 | Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LARGE1 | Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMP2 | Rebecca Foulger reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMC3 | Rebecca Foulger reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMC2 | Rebecca Foulger reviewed gene: LAMC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMB3 | Rebecca Foulger reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMB1 | Rebecca Foulger reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMA3 | Rebecca Foulger reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMA2 | Rebecca Foulger reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LAMA1 | Rebecca Foulger reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | L2HGDH | Rebecca Foulger reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | L1CAM | Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KYNU | Rebecca Foulger reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KRT74 | Rebecca Foulger commented on gene: KRT74: DDG2P rating in original PAGE list: Probable for HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KRAS | Rebecca Foulger commented on gene: KRAS: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME and Confirmed for NOONAN SYNDROME TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KPTN | Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KMT5B | Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KMT2D | Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KMT2B | Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KMT2A | Rebecca Foulger reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KLHL7 | Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KLHL41 | Rebecca Foulger reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KLHL40 | Rebecca Foulger reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KLF1 | Rebecca Foulger commented on gene: KLF1: DDG2P rating in original PAGE list: Confirmed for ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KISS1R | Rebecca Foulger reviewed gene: KISS1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF7 | Rebecca Foulger commented on gene: KIF7: DDG2P rating in original PAGE list: Confirmed for ACROCALLOSAL SYNDROME and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF5C | Rebecca Foulger commented on gene: KIF5C: DDG2P rating in original PAGE list: Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF2A | Rebecca Foulger commented on gene: KIF2A: DDG2P rating in original PAGE list: Probable for MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF22 | Rebecca Foulger commented on gene: KIF22: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF1BP | Rebecca Foulger reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF1A | Rebecca Foulger commented on gene: KIF1A: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, and Confirmed for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIF11 | Rebecca Foulger reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIDINS220 | Rebecca Foulger reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIAA1109 | Rebecca Foulger commented on gene: KIAA1109: DDG2P rating in original PAGE list: Probable for Brain atrophy, Dandy Walker and Contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KIAA0586 | Rebecca Foulger reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KDM6A | Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KDM5C | Rebecca Foulger reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KDM1A | Rebecca Foulger commented on gene: KDM1A: DDG2P rating in original PAGE list: Probable for Developmental delay and distinctive facial features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCTD7 | Rebecca Foulger commented on gene: KCTD7: DDG2P rating in original PAGE list: Confirmed for NEURONAL CEROID LIPOFUSCINOSIS and Confirmed for PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCTD1 | Rebecca Foulger commented on gene: KCTD1: DDG2P rating in original PAGE list: Confirmed for SCALP-EAR-NIPPLE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNT1 | Rebecca Foulger commented on gene: KCNT1: DDG2P rating in original PAGE list: Confirmed for MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY and Confirmed for SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNQ5 | Rebecca Foulger commented on gene: KCNQ5: DDG2P rating in original PAGE list: Probable for Intellectual Disability with or without Epileptic Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNQ3 | Rebecca Foulger commented on gene: KCNQ3: DDG2P rating in original PAGE list: Confirmed for KCNQ3 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNQ2 | Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNQ1 | Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNJ6 | Rebecca Foulger commented on gene: KCNJ6: DDG2P rating in original PAGE list: Probable for KEPPEN-LUBINSKY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNJ2 | Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNJ11 | Rebecca Foulger commented on gene: KCNJ11: DDG2P rating in original PAGE list: Confirmed for FAMILIAL HYPERINSULINISM, DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, and Confirmed for DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNJ10 | Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNJ1 | Rebecca Foulger reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNH1 | Rebecca Foulger commented on gene: KCNH1: DDG2P rating in original PAGE list: Probable for TEMPLE BARRAISTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNC3 | Rebecca Foulger commented on gene: KCNC3: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA TYPE 13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNC1 | Rebecca Foulger commented on gene: KCNC1: DDG2P rating in original PAGE list: Confirmed for EPILEPSY, PROGRESSIVE MYOCLONIC 7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNB1 | Rebecca Foulger commented on gene: KCNB1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNA2 | Rebecca Foulger commented on gene: KCNA2: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KBTBD13 | Rebecca Foulger commented on gene: KBTBD13: DDG2P rating in original PAGE list: Confirmed for NEMALINE MYOPATHY 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KAT6B | Rebecca Foulger commented on gene: KAT6B: DDG2P rating in original PAGE list: Confirmed for BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE and Confirmed for GENITOPATELLAR SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KAT6A | Rebecca Foulger reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KANSL1 | Rebecca Foulger reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | JAM3 | Rebecca Foulger reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | JAK3 | Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | JAGN1 | Rebecca Foulger reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | JAG1 | Rebecca Foulger reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IVD | Rebecca Foulger reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITGB4 | Rebecca Foulger reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITGA8 | Rebecca Foulger reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITGA7 | Rebecca Foulger reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITGA6 | Rebecca Foulger reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITGA3 | Rebecca Foulger reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ITCH | Rebecca Foulger reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ISPD | Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IRX5 | Rebecca Foulger commented on gene: IRX5: DDG2P rating in original PAGE list: Probable for HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IRF6 | Rebecca Foulger commented on gene: IRF6: DDG2P rating in original PAGE list: Confirmed for VAN DER WOUDE SYNDROME and Confirmed for POPLITEAL PTERYGIUM SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IQSEC2 | Rebecca Foulger commented on gene: IQSEC2: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IQCB1 | Rebecca Foulger reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | INVS | Rebecca Foulger reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | INSR | Rebecca Foulger reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | INPPL1 | Rebecca Foulger reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | INPP5K | Rebecca Foulger commented on gene: INPP5K: DDG2P rating in original PAGE list: Probable for Muscular dystrophy, congenital, with cataracts and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | INPP5E | Rebecca Foulger commented on gene: INPP5E: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS and Confirmed for JOUBERT SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IMPAD1 | Rebecca Foulger reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IL1RAPL1 | Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IL17RD | Rebecca Foulger commented on gene: IL17RD: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IKBKG | Rebecca Foulger commented on gene: IKBKG: DDG2P rating in original PAGE list: Confirmed for IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA, Confirmed for INCONTINENTIA PIGMENTI, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED and Confirmed for SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IHH | Rebecca Foulger commented on gene: IHH: DDG2P rating in original PAGE list: Confirmed for BRACHYDACTYLY, TYPE A1 and Confirmed for ACROCAPITOFEMORAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGSF1 | Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGHMBP2 | Rebecca Foulger reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGFBP7 | Rebecca Foulger reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGF2 | Rebecca Foulger commented on gene: IGF2: DDG2P rating in original PAGE list: Confirmed for CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME and Confirmed for BECKWITH-WIEDEMANN SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGF1R | Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IGF1 | Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFT80 | Rebecca Foulger commented on gene: IFT80: DDG2P rating in original PAGE list: Confirmed for ASPHYXIATING THORACIC DYSTROPHY 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFT43 | Rebecca Foulger commented on gene: IFT43: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFT172 | Rebecca Foulger reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFT140 | Rebecca Foulger reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFT122 | Rebecca Foulger commented on gene: IFT122: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IFITM5 | Rebecca Foulger commented on gene: IFITM5: DDG2P rating in original PAGE list: Confirmed for OSTEOGENESIS IMPERFECTA TYPE V | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IER3IP1 | Rebecca Foulger reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IDUA | Rebecca Foulger reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IDS | Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | IARS | Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HYLS1 | Rebecca Foulger commented on gene: HYLS1: DDG2P rating in original PAGE list: Confirmed for HYDROLETHALUS SYNDROME TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HYDIN | Rebecca Foulger reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HYAL1 | Rebecca Foulger reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HUWE1 | Rebecca Foulger commented on gene: HUWE1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSPG2 | Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSF4 | Rebecca Foulger commented on gene: HSF4: DDG2P rating in original PAGE list: Confirmed for CATARACT MARNER TYPE and Confirmed for CATARACT ZONULAR HSF4-RELATED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSD3B7 | Rebecca Foulger reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSD17B4 | Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSD17B3 | Rebecca Foulger reviewed gene: HSD17B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSD17B10 | Rebecca Foulger commented on gene: HSD17B10: DDG2P rating in original PAGE list: Confirmed for 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY and Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HRAS | Rebecca Foulger commented on gene: HRAS: DDG2P rating in original PAGE list: Confirmed for COSTELLO SYNDROME and Confirmed for CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HR | Rebecca Foulger commented on gene: HR: DDG2P rating in original PAGE list: Confirmed for ALOPECIA UNIVERSALIS and Confirmed for ATRICHIA WITH PAPULAR LESIONS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPSE2 | Rebecca Foulger reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPS1 | Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPRT1 | Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPGD | Rebecca Foulger reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPD | Rebecca Foulger commented on gene: HPD: DDG2P rating in original PAGE list: Probable for HAWKINSINURIA and Probable for TYROSINEMIA TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HOXD13 | Rebecca Foulger commented on gene: HOXD13: DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, Confirmed for SYNPOLYDACTYLY 1, Confirmed for SYNDACTYLY TYPE 5, Confirmed for BRACHYDACTYLY TYPE E, Confirmed for BRACHYDACTYLY-SYNDACTYLY SYNDROME, and Confirmed for BRACHYDACTYLY TYPE D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HOXC13 | Rebecca Foulger reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HOXB1 | Rebecca Foulger commented on gene: HOXB1: DDG2P rating in original PAGE list: Probable for FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HOXA13 | Rebecca Foulger reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HOXA1 | Rebecca Foulger reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HNRNPU | Rebecca Foulger reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HNRNPH2 | Rebecca Foulger commented on gene: HNRNPH2: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder in Females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HNF4A | Rebecca Foulger commented on gene: HNF4A: DDG2P rating in original PAGE list: Confirmed for HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 and Confirmed for ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HNF1B | Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HMX1 | Rebecca Foulger reviewed gene: HMX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HMGCS2 | Rebecca Foulger commented on gene: HMGCS2: DDG2P rating in original PAGE list: Confirmed for 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HMGCL | Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HLCS | Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HIVEP2 | Rebecca Foulger reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HIST1H4C | Rebecca Foulger commented on gene: HIST1H4C: DDG2P rating in original PAGE list: Probable for HIST1H4C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HIST1H1E | Rebecca Foulger reviewed gene: HIST1H1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HINT1 | Rebecca Foulger reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HIBCH | Rebecca Foulger reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HGSNAT | Rebecca Foulger reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HEXB | Rebecca Foulger reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HEXA | Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HESX1 | Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HES7 | Rebecca Foulger reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HECW2 | Rebecca Foulger commented on gene: HECW2: DDG2P rating in original PAGE list: Confirmed for HECW2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HDAC8 | Rebecca Foulger commented on gene: HDAC8: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME and Confirmed for WILSON-TURNER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HDAC4 | Rebecca Foulger reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HCN1 | Rebecca Foulger commented on gene: HCN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HCFC1 | Rebecca Foulger commented on gene: HCFC1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, X-LINKED 3 and Confirmed for COBALAMIN DISORDER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HCCS | Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HAX1 | Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HADHA | Rebecca Foulger reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HADH | Rebecca Foulger reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HACE1 | Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HAAO | Rebecca Foulger reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | H3F3A | Rebecca Foulger commented on gene: H3F3A: DDG2P rating in original PAGE list: Probable for Craniofacial with neurodevelopment disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | H19 | Rebecca Foulger commented on gene: H19: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GZF1 | Rebecca Foulger reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GUSB | Rebecca Foulger reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GUCY2C | Rebecca Foulger commented on gene: GUCY2C: DDG2P rating in original PAGE list: Confirmed for MECONIUM ILEUS and Confirmed for FAMILIAL DIARRHEA DIARRHEA 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GTPBP3 | Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GTF2H5 | Rebecca Foulger reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GTF2E2 | Rebecca Foulger commented on gene: GTF2E2: DDG2P rating in original PAGE list: Probable for DNA Repair-Proficient Trichothiodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GSPT2 | Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRM6 | Rebecca Foulger reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRM1 | Rebecca Foulger reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIP1 | Rebecca Foulger reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIN2D | Rebecca Foulger commented on gene: GRIN2D: DDG2P rating in original PAGE list: Probable for Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIN2B | Rebecca Foulger commented on gene: GRIN2B: DDG2P rating in original PAGE list: Confirmed for AUTISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and Confirmed for EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIN2A | Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIN1 | Rebecca Foulger commented on gene: GRIN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIK2 | Rebecca Foulger reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRIA3 | Rebecca Foulger reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRHL3 | Rebecca Foulger reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GRHL2 | Rebecca Foulger commented on gene: GRHL2: DDG2P rating in original PAGE list: Probable for ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPX4 | Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPSM2 | Rebecca Foulger reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPKOW | Rebecca Foulger reviewed gene: GPKOW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPI | Rebecca Foulger commented on gene: GPI: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPC6 | Rebecca Foulger reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPC3 | Rebecca Foulger reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GPAA1 | Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GORAB | Rebecca Foulger reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNS | Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNPTG | Rebecca Foulger reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNPTAB | Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNPAT | Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNB5 | Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNB1 | Rebecca Foulger commented on gene: GNB1: DDG2P rating in original PAGE list: Confirmed for Severe Neurodevelopmental Disability, Hypotonia, and Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNAS | Rebecca Foulger commented on gene: GNAS: DDG2P rating in original PAGE list: Confirmed for PSEUDOHYPOPARATHYROIDISM TYPE 1B, Confirmed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, Confirmed for ALBRIGHT HEREDITARY OSTEODYSTROPHY and Confirmed for GNAS HYPERFUNCTION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNAQ | Rebecca Foulger commented on gene: GNAQ: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNAO1 | Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNAI3 | Rebecca Foulger commented on gene: GNAI3: DDG2P rating in original PAGE list: Confirmed for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNAI1 | Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNA14 | Rebecca Foulger commented on gene: GNA14: DDG2P rating in original PAGE list: Probable for Congenital vascular tumours | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GNA11 | Rebecca Foulger commented on gene: GNA11: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GMPPB | Rebecca Foulger commented on gene: GMPPB: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GMPPA | Rebecca Foulger reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GMNN | Rebecca Foulger commented on gene: GMNN: DDG2P rating in original PAGE list: Probable for Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GM2A | Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLUL | Rebecca Foulger commented on gene: GLUL: DDG2P rating in original PAGE list: Confirmed for CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLUD1 | Rebecca Foulger commented on gene: GLUD1: DDG2P rating in original PAGE list: Confirmed for HYPERINSULINISM-HYPERAMMONEMIA SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLMN | Rebecca Foulger reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLIS3 | Rebecca Foulger reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLIS2 | Rebecca Foulger reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLI3 | Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLI2 | Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLE1 | Rebecca Foulger commented on gene: GLE1: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLDN | Rebecca Foulger reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLDC | Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GLB1 | Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GK | Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJC2 | Rebecca Foulger commented on gene: GJC2: DDG2P rating in original PAGE list: Confirmed for LYMPHEDEMA, HEREDITARY, IC, Confirmed for SPASTIC PARAPLEGIA, 44 and Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJB2 | Rebecca Foulger commented on gene: GJB2: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A, Confirmed for PALMOPLANTAR KERATODERMA WITH DEAFNESS, Confirmed for ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME, Confirmed for VOHWINKEL SYNDROME and Confirmed for BART-PUMPHREY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJA8 | Rebecca Foulger commented on gene: GJA8: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT TYPE 1 and Confirmed for CATARACT-MICROCORNEA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJA3 | Rebecca Foulger commented on gene: GJA3: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJA1 | Rebecca Foulger commented on gene: GJA1: DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GHR | Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GFM1 | Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GFAP | Rebecca Foulger commented on gene: GFAP: DDG2P rating in original PAGE list: Confirmed for ALEXANDER DISEASE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GDI1 | Rebecca Foulger reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GDF6 | Rebecca Foulger commented on gene: GDF6: DDG2P rating in original PAGE list: Confirmed for KLIPPEL-FEIL SYNDROME TYPE 1 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GDF5 | Rebecca Foulger commented on gene: GDF5: DDG2P rating in original PAGE list: Confirmed for ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, Confirmed for BRACHYDACTYLY TYPE C, Confirmed for DU PAN SYNDROME, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 2, Confirmed for BRACHYDACTYLY TYPE A1, Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE and Confirmed for BRACHYDACTYLY TYPE A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GCH1 | Rebecca Foulger commented on gene: GCH1: DDG2P rating in original PAGE list: Confirmed for GTP CYCLOHYDROLASE 1 DEFICIENCY and Confirmed for DYSTONIA TYPE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GCDH | Rebecca Foulger commented on gene: GCDH: DDG2P rating in original PAGE list: Confirmed for GLUTARICACIDEMIA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GBE1 | Rebecca Foulger reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GBA2 | Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GATM | Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GATAD2B | Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GATA6 | Rebecca Foulger commented on gene: GATA6: DDG2P rating in original PAGE list: Confirmed for ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIAL SEPTAL DEFECT 9, and Confirmed for PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GATA4 | Rebecca Foulger reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GATA2 | Rebecca Foulger reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GAS8 | Rebecca Foulger reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GAMT | Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALT | Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALNS | Rebecca Foulger reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALK1 | Rebecca Foulger reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALE | Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALC | Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GABRG2 | Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GABRB3 | Rebecca Foulger commented on gene: GABRB3: DDG2P rating in original PAGE list: Confirmed for CHILDHOOD ABSENCE EPILEPSY TYPE 5 and Confirmed for EPILEPTIC ENCEPHALOPATHIES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GABRB2 | Rebecca Foulger commented on gene: GABRB2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GABRA1 | Rebecca Foulger commented on gene: GABRA1: DDG2P rating in original PAGE list: Probable for JUVENILE MYOCLONIC EPILEPSY and Probable for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GAA | Rebecca Foulger reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | G6PC3 | Rebecca Foulger reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FZD6 | Rebecca Foulger reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FZD5 | Rebecca Foulger commented on gene: FZD5: DDG2P rating in original PAGE list: Probable for Autosomal Dominant Coloboma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FYCO1 | Rebecca Foulger reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FUZ | Rebecca Foulger commented on gene: FUZ: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FUCA1 | Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FTSJ1 | Rebecca Foulger reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FTL | Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FTCD | Rebecca Foulger reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FRRS1L | Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FRMPD4 | Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FRMD7 | Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FREM2 | Rebecca Foulger reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FREM1 | Rebecca Foulger reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FRAS1 | Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXRED1 | Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXP3 | Rebecca Foulger reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXP2 | Rebecca Foulger reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXP1 | Rebecca Foulger reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXN1 | Rebecca Foulger reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXL2 | Rebecca Foulger reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXG1 | Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXF1 | Rebecca Foulger reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXE3 | Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXE1 | Rebecca Foulger commented on gene: FOXE1: DDG2P rating in original PAGE list: Confirmed for BAMFORTH-LAZARUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXC2 | Rebecca Foulger reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOXC1 | Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FOLR1 | Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FN1 | Rebecca Foulger commented on gene: FN1: DDG2P rating in original PAGE list: Probable for Spondylometaphyseal Dysplasia with Corner Fractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FMN2 | Rebecca Foulger reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLVCR2 | Rebecca Foulger reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLVCR1 | Rebecca Foulger commented on gene: FLVCR1: DDG2P rating in original PAGE list: Confirmed for ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLT4 | Rebecca Foulger commented on gene: FLT4: DDG2P rating in original PAGE list: Confirmed for MILROY DISEASE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLRT3 | Rebecca Foulger commented on gene: FLRT3: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLNB | Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLAD1 | Rebecca Foulger reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FKTN | Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FKRP | Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FKBP14 | Rebecca Foulger reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FIG4 | Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FHL1 | Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FH | Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGFR3 | Rebecca Foulger commented on gene: FGFR3: DDG2P rating in original PAGE list: Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for MUENKE SYNDROME, Confirmed for CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, Confirmed for ACHONDROPLASIA, Confirmed for THANATOPHORIC DYSPLASIA TYPE 2, Confirmed for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, Confirmed for HYPOCHONDROPLASIA, and Confirmed for THANATOPHORIC DYSPLASIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGFR2 | Rebecca Foulger commented on gene: FGFR2: DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGFR1 | Rebecca Foulger commented on gene: FGFR1: DDG2P rating in original PAGE list: Confirmed for OSTEOGLOPHONIC DYSPLASIA, Confirmed for KALLMANN SYNDROME TYPE 2, Confirmed for PFEIFFER SYNDROME, Confirmed for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, Confirmed for Encephalocraniocutaneous lipomatosis, and Confirmed for Hartsfield syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF9 | Rebecca Foulger reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF8 | Rebecca Foulger commented on gene: FGF8: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF3 | Rebecca Foulger reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF17 | Rebecca Foulger commented on gene: FGF17: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF12 | Rebecca Foulger commented on gene: FGF12: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGF10 | Rebecca Foulger reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGD4 | Rebecca Foulger reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FGD1 | Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FEZF1 | Rebecca Foulger reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FBXL4 | Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FBP1 | Rebecca Foulger reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FBN2 | Rebecca Foulger commented on gene: FBN2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURAL ARACHNODACTYLY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FBN1 | Rebecca Foulger commented on gene: FBN1: DDG2P rating in original PAGE list: Confirmed for biallelic and monoallelic MARFAN SYNDROME, Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and Confirmed for MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FBLN5 | Rebecca Foulger commented on gene: FBLN5: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAT4 | Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAR1 | Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCM | Rebecca Foulger reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCL | Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCI | Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCG | Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCF | Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCE | Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCD2 | Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCC | Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCB | Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FANCA | Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAM20C | Rebecca Foulger reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAM20A | Rebecca Foulger reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAM126A | Rebecca Foulger reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAM111A | Rebecca Foulger commented on gene: FAM111A: DDG2P rating in original PAGE list: Confirmed for KENNY-CAFFEY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAH | Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EZH2 | Rebecca Foulger commented on gene: EZH2: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EYA1 | Rebecca Foulger reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EXT2 | Rebecca Foulger reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EXT1 | Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EXPH5 | Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EXOSC3 | Rebecca Foulger commented on gene: EXOSC3: DDG2P rating in original PAGE list: Confirmed for PONTOCEREBELLAR HYPOPLASIA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EVC2 | Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EVC | Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ETHE1 | Rebecca Foulger reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ETFDH | Rebecca Foulger reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ETFB | Rebecca Foulger reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ETFA | Rebecca Foulger reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ESCO2 | Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERF | Rebecca Foulger commented on gene: ERF: DDG2P rating in original PAGE list: Confirmed for COMPLEX CRANIOSYNOSTOSIS and Confirmed for Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC8 | Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC6L2 | Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC6 | Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC5 | Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC3 | Rebecca Foulger reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC2 | Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ERCC1 | Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EPHX1 | Rebecca Foulger commented on gene: EPHX1: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EPHB4 | Rebecca Foulger reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EPG5 | Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EP300 | Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EOGT | Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ENPP1 | Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EMD | Rebecca Foulger reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EMC1 | Rebecca Foulger commented on gene: EMC1: DDG2P rating in original PAGE list: Probable for monoallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy and Probable for biallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ELOVL4 | Rebecca Foulger reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ELN | Rebecca Foulger reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ELMO2 | Rebecca Foulger reviewed gene: ELMO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ELAC2 | Rebecca Foulger reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EIF4A3 | Rebecca Foulger commented on gene: EIF4A3: DDG2P rating in original PAGE list: Confirmed for RICHIERI-COSTA-PEREIRA SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EIF2S3 | Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EIF2B3 | Rebecca Foulger reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EIF2AK3 | Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EHMT1 | Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EGR2 | Rebecca Foulger reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EFTUD2 | Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EFNB1 | Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EEF1A2 | Rebecca Foulger commented on gene: EEF1A2: DDG2P rating in original PAGE list: Probable for INFANTILE EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EED | Rebecca Foulger commented on gene: EED: DDG2P rating in original PAGE list: Probable for Weaver-like overgrowth syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDNRB | Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDNRA | Rebecca Foulger commented on gene: EDNRA: DDG2P rating in original PAGE list: Confirmed for MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDN1 | Rebecca Foulger commented on gene: EDN1: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDAR | Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDA | Rebecca Foulger commented on gene: EDA: DDG2P rating in original PAGE list: Confirmed for ECTODERMAL DYSPLASIA TYPE 1 and Confirmed for TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ECEL1 | Rebecca Foulger reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EBP | Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EBF3 | Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DYRK1A | Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DYNC2H1 | Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DYNC1H1 | Rebecca Foulger commented on gene: DYNC1H1: DDG2P rating in original PAGE list: Confirmed for SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD and Confirmed for SEVERE ID WITH NEURONAL MIGRATION DISORDER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DYM | Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DVL3 | Rebecca Foulger commented on gene: DVL3: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DVL1 | Rebecca Foulger commented on gene: DVL1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DUSP6 | Rebecca Foulger commented on gene: DUSP6: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DSTYK | Rebecca Foulger reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DSPP | Rebecca Foulger commented on gene: DSPP: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, and Confirmed for DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DSP | Rebecca Foulger commented on gene: DSP: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DSG1 | Rebecca Foulger reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DRC1 | Rebecca Foulger reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DPM3 | Rebecca Foulger reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DPM1 | Rebecca Foulger reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DPF2 | Rebecca Foulger commented on gene: DPF2: DDG2P rating in original PAGE list: Probable for Coffin Siris like disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DPAGT1 | Rebecca Foulger commented on gene: DPAGT1: DDG2P rating in original PAGE list: Confirmed for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 and Confirmed for DPAGT1-CDG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DOLK | Rebecca Foulger commented on gene: DOLK: DDG2P rating in original PAGE list: Confirmed for CONGENITAL DISORDERS OF GLYCOSYLATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DOCK8 | Rebecca Foulger reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DOCK7 | Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DOCK6 | Rebecca Foulger reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNMT3B | Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNMT3A | Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNM1 | Rebecca Foulger commented on gene: DNM1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAJC19 | Rebecca Foulger reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAJC12 | Rebecca Foulger reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAI1 | Rebecca Foulger reviewed gene: DNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAH11 | Rebecca Foulger reviewed gene: DNAH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAAF5 | Rebecca Foulger commented on gene: DNAAF5: DDG2P rating in original PAGE list: Probable for CILIARY DYSKINESIA, PRIMARY, 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAAF4 | Rebecca Foulger reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAAF3 | Rebecca Foulger reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DNAAF1 | Rebecca Foulger reviewed gene: DNAAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DMPK | Rebecca Foulger commented on gene: DMPK: DDG2P rating in original PAGE list: Confirmed for DYSTROPHIA MYOTONICA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DMP1 | Rebecca Foulger reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLL4 | Rebecca Foulger reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLL3 | Rebecca Foulger reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLG4 | Rebecca Foulger reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLG3 | Rebecca Foulger reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLD | Rebecca Foulger reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DLAT | Rebecca Foulger reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DKC1 | Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DIS3L2 | Rebecca Foulger reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHX30 | Rebecca Foulger commented on gene: DHX30: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHTKD1 | Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHODH | Rebecca Foulger reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHH | Rebecca Foulger reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHFR | Rebecca Foulger commented on gene: DHFR: DDG2P rating in original PAGE list: Confirmed for MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHDDS | Rebecca Foulger commented on gene: DHDDS: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHCR7 | Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DHCR24 | Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DEPDC5 | Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DENND5A | Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDX6 | Rebecca Foulger commented on gene: DDX6: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDX59 | Rebecca Foulger commented on gene: DDX59: DDG2P rating in original PAGE list: Probable for OROFACIODIGITAL SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDX3X | Rebecca Foulger commented on gene: DDX3X: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DIABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDX11 | Rebecca Foulger reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDR2 | Rebecca Foulger commented on gene: DDR2: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDOST | Rebecca Foulger reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDHD2 | Rebecca Foulger reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDHD1 | Rebecca Foulger reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDC | Rebecca Foulger reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DDB2 | Rebecca Foulger reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DCX | Rebecca Foulger commented on gene: DCX: DDG2P rating in original PAGE list: Confirmed for SUBCORTICAL BAND HETEROTOPIA X-LINKED and Confirmed for LISSENCEPHALY X-LINKED TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DCHS1 | Rebecca Foulger reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DCDC2 | Rebecca Foulger reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DCC | Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DBT | Rebecca Foulger reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DARS | Rebecca Foulger commented on gene: DARS: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | DAG1 | Rebecca Foulger commented on gene: DAG1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP2U1 | Rebecca Foulger reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP21A2 | Rebecca Foulger reviewed gene: CYP21A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP1B1 | Rebecca Foulger commented on gene: CYP1B1: DDG2P rating in original PAGE list: Confirmed for PRIMARY CONGENITAL GLAUCOMA TYPE 3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP19A1 | Rebecca Foulger commented on gene: CYP19A1: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP17A1 | Rebecca Foulger reviewed gene: CYP17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP11B1 | Rebecca Foulger reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP11A1 | Rebecca Foulger reviewed gene: CYP11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYC1 | Rebecca Foulger commented on gene: CYC1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYB5R3 | Rebecca Foulger reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CWC27 | Rebecca Foulger reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CUX2 | Rebecca Foulger commented on gene: CUX2: DDG2P rating in original PAGE list: Probable for Developmental epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CUL7 | Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CUL4B | Rebecca Foulger reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTSK | Rebecca Foulger reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTSD | Rebecca Foulger reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTSA | Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTNS | Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTNND1 | Rebecca Foulger reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTNNB1 | Rebecca Foulger reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTDP1 | Rebecca Foulger reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTCF | Rebecca Foulger reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTC1 | Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CSTB | Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CSTA | Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CSPP1 | Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CSNK2A1 | Rebecca Foulger commented on gene: CSNK2A1: DDG2P rating in original PAGE list: Confirmed for CSNK2A1 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYGD | Rebecca Foulger commented on gene: CRYGD: DDG2P rating in original PAGE list: Confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 and Confirmed for CATARACT AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYGC | Rebecca Foulger reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYBB3 | Rebecca Foulger commented on gene: CRYBB3: DDG2P rating in original PAGE list: Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYBB2 | Rebecca Foulger commented on gene: CRYBB2: DDG2P rating in original PAGE list: Confirmed for CATARACT, COPPOCK-LIKE and Confirmed for CATARACT, CONGENITAL, CERULEAN TYPE, 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYBB1 | Rebecca Foulger reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYBA4 | Rebecca Foulger commented on gene: CRYBA4: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYBA1 | Rebecca Foulger reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRYAA | Rebecca Foulger commented on gene: CRYAA: DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRX | Rebecca Foulger reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRTAP | Rebecca Foulger reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRLF1 | Rebecca Foulger reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRELD1 | Rebecca Foulger commented on gene: CRELD1: DDG2P rating in original PAGE list: Probable for HETEROTAXY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CREBBP | Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRB2 | Rebecca Foulger reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRB1 | Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRADD | Rebecca Foulger commented on gene: CRADD: DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CPT2 | Rebecca Foulger reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CPS1 | Rebecca Foulger reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C5orf42 | Rebecca Foulger commented on gene: C5orf42: DDG2P rating in original PAGE list: Confirmed for JOUBERT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CPAMD8 | Rebecca Foulger reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COX7B | Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COX6B1 | Rebecca Foulger reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COX15 | Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COX10 | Rebecca Foulger commented on gene: COX10: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL COMPLEX IV DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COQ9 | Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COQ8A | Rebecca Foulger reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COQ4 | Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COQ2 | Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COMP | Rebecca Foulger commented on gene: COMP: DDG2P rating in original PAGE list: Confirmed for ARE THE CAUSE OF PSEUDOACHONDROPLASIA and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COLEC11 | Rebecca Foulger reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COLEC10 | Rebecca Foulger reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL9A3 | Rebecca Foulger commented on gene: COL9A3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL9A2 | Rebecca Foulger commented on gene: COL9A2: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME, TYPE V and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL9A1 | Rebecca Foulger commented on gene: COL9A1: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME TYPE 4 and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL6A3 | Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL6A2 | Rebecca Foulger reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL6A1 | Rebecca Foulger commented on gene: COL6A1: DDG2P rating in original PAGE list: Confirmed for COL6A1 associated myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL5A2 | Rebecca Foulger reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL5A1 | Rebecca Foulger reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL4A4 | Rebecca Foulger reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL4A3BP | Rebecca Foulger commented on gene: COL4A3BP: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL4A3 | Rebecca Foulger reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL2A1 | Rebecca Foulger commented on gene: COL2A1: DDG2P rating in original PAGE list: Confirmed for KNIEST DYSPLASIA, Confirmed for ACHONDROGENESIS TYPE 2, Confirmed for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, Confirmed for STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, Confirmed for SPONDYLOPERIPHERAL DYSPLASIA, Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, Confirmed for RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT and Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL25A1 | Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL1A2 | Rebecca Foulger reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL1A1 | Rebecca Foulger commented on gene: COL1A1: DDG2P rating in original PAGE list: Confirmed for EHLERS-DANLOS SYNDROME TYPE VIIA, Confirmed for OSTEOGENESIS IMPERFECTA TYPE I, Confirmed for OSTEOGENESIS IMPERFECTA TYPE III, Confirmed for EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED, Confirmed for CAFFEY DISEASE, Confirmed for OSTEOGENESIS IMPERFECTA TYPE IIA and Confirmed for COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL18A1 | Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL13A1 | Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL11A2 | Rebecca Foulger commented on gene: COL11A2: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 13, Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, Confirmed for STICKLER SYNDROME TYPE 3 and Confirmed for WEISSENBACHER-ZWEYMUELLER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL11A1 | Rebecca Foulger commented on gene: COL11A1: DDG2P rating in original PAGE list: Confirmed for FIBROCHONDROGENESIS and Confirmed for STICKLER SYNDROME, TYPE II. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COL10A1 | Rebecca Foulger commented on gene: COL10A1: DDG2P rating in original PAGE list: Confirmed for SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COG8 | Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COG7 | Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COG5 | Rebecca Foulger reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COG4 | Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COG1 | Rebecca Foulger reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COASY | Rebecca Foulger reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CNTNAP2 | Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CNTNAP1 | Rebecca Foulger reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CNOT3 | Rebecca Foulger reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CNKSR2 | Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLTC | Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLPP | Rebecca Foulger commented on gene: CLPP: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLPB | Rebecca Foulger reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLP1 | Rebecca Foulger commented on gene: CLP1: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLN8 | Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLN5 | Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLN3 | Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLMP | Rebecca Foulger reviewed gene: CLMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLDN19 | Rebecca Foulger commented on gene: CLDN19: DDG2P rating in original PAGE list: Confirmed for HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLCNKB | Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CLCN7 | Rebecca Foulger reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CKAP2L | Rebecca Foulger reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CIT | Rebecca Foulger commented on gene: CIT: DDG2P rating in original PAGE list: Probable for PRIMARY MICROCEPHALY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CIB2 | Rebecca Foulger commented on gene: CIB2: DDG2P rating in original PAGE list: Confirmed for USHER SYNDROME TYPE 1J and Confirmed for NONSYNDROMIC DEAFNESS DFNB48. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHUK | Rebecca Foulger reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHSY1 | Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHST3 | Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHST14 | Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRNG | Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRND | Rebecca Foulger reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRNB2 | Rebecca Foulger commented on gene: CHRNB2: DDG2P rating in original PAGE list: Probable for CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT and Probable NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRNA4 | Rebecca Foulger commented on gene: CHRNA4: DDG2P rating in original PAGE list: Confirmed for NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRNA1 | Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHRDL1 | Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHMP1A | Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHKB | Rebecca Foulger reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD8 | Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD7 | Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD4 | Rebecca Foulger reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD3 | Rebecca Foulger commented on gene: CHD3: DDG2P rating in original PAGE list: Probable for Apraxia of speech | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHD2 | Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHAT | Rebecca Foulger reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CHAMP1 | Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CFTR | Rebecca Foulger reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CFL2 | Rebecca Foulger commented on gene: CFL2: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CFC1 | Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C21orf2 | Rebecca Foulger commented on gene: C21orf2: DDG2P rating in original PAGE list: Confirmed for Axial Spondylometaphyseal Dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C21orf59 | Rebecca Foulger commented on gene: C21orf59: DDG2P rating in original PAGE list: Probable for PRIMARY CILIARY DYSKINESIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP83 | Rebecca Foulger reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP63 | Rebecca Foulger reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP57 | Rebecca Foulger reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP41 | Rebecca Foulger reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP290 | Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP164 | Rebecca Foulger reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP152 | Rebecca Foulger reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP135 | Rebecca Foulger reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CEP104 | Rebecca Foulger reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CENPJ | Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDT1 | Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDON | Rebecca Foulger commented on gene: CDON: DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY 11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDKN1C | Rebecca Foulger commented on gene: CDKN1C: DDG2P rating in original PAGE list: Confirmed for BECKWITH-WIEDEMANN SYNDROME and Confirmed for IMAGe Syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDKL5 | Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDK5RAP2 | Rebecca Foulger reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDK13 | Rebecca Foulger commented on gene: CDK13: DDG2P rating in original PAGE list: Confirmed for Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDH3 | Rebecca Foulger reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDC6 | Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDC45 | Rebecca Foulger reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CDAN1 | Rebecca Foulger reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CD96 | Rebecca Foulger reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CD151 | Rebecca Foulger reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FAM58A | Rebecca Foulger commented on gene: FAM58A: DDG2P rating in original PAGE list: Confirmed for STAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCNO | Rebecca Foulger reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCND2 | Rebecca Foulger commented on gene: CCND2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC88C | Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC8 | Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC78 | Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC65 | Rebecca Foulger reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC40 | Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC39 | Rebecca Foulger reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC22 | Rebecca Foulger commented on gene: CCDC22: DDG2P rating in original PAGE list: Probable for SYNDROMIC X-LINKED INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC151 | Rebecca Foulger reviewed gene: CCDC151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC115 | Rebecca Foulger reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC114 | Rebecca Foulger reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC103 | Rebecca Foulger reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCBE1 | Rebecca Foulger reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CC2D2A | Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CC2D1A | Rebecca Foulger reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CBS | Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CBL | Rebecca Foulger commented on gene: CBL: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CAVIN1 | Rebecca Foulger reviewed gene: CAVIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CASK | Rebecca Foulger commented on gene: CASK: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 and Confirmed for MRX WITH/WITHOUT NYSTAGMUS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CARS2 | Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CAMTA1 | Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CAMK2B | Rebecca Foulger reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CAMK2A | Rebecca Foulger reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CAD | Rebecca Foulger commented on gene: CAD: DDG2P rating in original PAGE list: Confirmed for Uridine-responsive epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CACNA1D | Rebecca Foulger commented on gene: CACNA1D: DDG2P rating in original PAGE list: Probable for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS and Probable for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CACNA1C | Rebecca Foulger commented on gene: CACNA1C: DDG2P rating in original PAGE list: Confirmed for TIMOTHY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CACNA1A | Rebecca Foulger commented on gene: CACNA1A: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CA8 | Rebecca Foulger reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CA5A | Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CA2 | Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C8orf37 | Rebecca Foulger reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C2CD3 | Rebecca Foulger reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C1QBP | Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C12orf65 | Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | C12orf57 | Rebecca Foulger commented on gene: C12orf57: DDG2P rating in original PAGE list: Probable for TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BUB1B | Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BTD | Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BSND | Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRWD3 | Rebecca Foulger reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRPF1 | Rebecca Foulger reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRIP1 | Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRAT1 | Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRAF | Rebecca Foulger commented on gene: BRAF: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 7, Confirmed for LEOPARD SYNDROME TYPE 3, and Confirmed for CARDIOFACIOCUTANEOUS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BPTF | Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BOLA3 | Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BMPR1B | Rebecca Foulger reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BMPER | Rebecca Foulger reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BMP4 | Rebecca Foulger reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BMP1 | Rebecca Foulger reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BLOC1S6 | Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BLM | Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BIN1 | Rebecca Foulger reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BICD2 | Rebecca Foulger commented on gene: BICD2: DDG2P rating in original PAGE list: Confirmed for PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BHLHA9 | Rebecca Foulger commented on gene: BHLHA9: DDG2P rating in original PAGE list: Confirmed for MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE and Confirmed for SPLIT HAND AND FOOT MALFORMATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BFSP2 | Rebecca Foulger commented on gene: BFSP2: DDG2P rating in original PAGE list: Confirmed for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCS1L | Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCOR | Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCL11A | Rebecca Foulger reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCKDHB | Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCKDHA | Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BCAP31 | Rebecca Foulger reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS9 | Rebecca Foulger reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS7 | Rebecca Foulger reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS5 | Rebecca Foulger reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS4 | Rebecca Foulger reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS2 | Rebecca Foulger reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS12 | Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS10 | Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BBS1 | Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BANF1 | Rebecca Foulger commented on gene: BANF1: DDG2P rating in original PAGE list: Probable for NESTOR-GUILLERMO PROGERIA SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B9D1 | Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B4GALT7 | Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B3GLCT | Rebecca Foulger reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B3GAT3 | Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B3GALT6 | Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | B3GALNT2 | Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AUTS2 | Rebecca Foulger reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AUH | Rebecca Foulger reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATRX | Rebecca Foulger reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATR | Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATP8B1 | Rebecca Foulger reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATP7A | Rebecca Foulger commented on gene: ATP7A: DDG2P rating in original PAGE list: Confirmed for OCCIPITAL HORN SYNDROME, Confirmed for SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 and Confirmed for MENKES DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATP6V1B2 | Rebecca Foulger commented on gene: ATP6V1B2: DDG2P rating in original PAGE list: Probable for ZIMMERMANN-LABAND SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATP6V1B1 | Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATP6V0A2 | Rebecca Foulger reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATM | Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ATIC | Rebecca Foulger reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASXL3 | Rebecca Foulger reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASXL2 | Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASXL1 | Rebecca Foulger reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASS1 | Rebecca Foulger reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASPM | Rebecca Foulger reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASPH | Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASPA | Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASNS | Rebecca Foulger commented on gene: ASNS: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASL | Rebecca Foulger reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ASAH1 | Rebecca Foulger commented on gene: ASAH1: DDG2P rating in original PAGE list: Confirmed for FARBER LIPOGRANULOMATOSIS and Confirmed for SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARX | Rebecca Foulger commented on gene: ARX: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARSB | Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARSA | Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARMC9 | Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARMC4 | Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARL6 | Rebecca Foulger commented on gene: ARL6: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 3 and Confirmed for RETINITIS PIGMENTOSA TYPE 55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARL13B | Rebecca Foulger reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARID2 | Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARID1B | Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARID1A | Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARHGAP31 | Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARG1 | Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARFGEF2 | Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARCN1 | Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | APTX | Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | APOPT1 | Rebecca Foulger reviewed gene: APOPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP4S1 | Rebecca Foulger reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP4M1 | Rebecca Foulger reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP4E1 | Rebecca Foulger reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP4B1 | Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP3B2 | Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP3B1 | Rebecca Foulger reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AP1S2 | Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANTXR2 | Rebecca Foulger reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANTXR1 | Rebecca Foulger reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANOS1 | Rebecca Foulger reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANKRD26 | Rebecca Foulger commented on gene: ANKRD26: DDG2P rating in original PAGE list: Probable for THROMBOCYTOPENIA 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANKRD11 | Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ANKH | Rebecca Foulger commented on gene: ANKH: DDG2P rating in original PAGE list: Confirmed for CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE and Confirmed for CHONDROCALCINOSIS 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AMT | Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AMPD2 | Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALX4 | Rebecca Foulger reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALX3 | Rebecca Foulger reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALX1 | Rebecca Foulger reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALS2 | Rebecca Foulger reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALPL | Rebecca Foulger commented on gene: ALPL: DDG2P rating in original PAGE list: Confirmed for HYPOPHOSPHATASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALMS1 | Rebecca Foulger reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG9 | Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG8 | Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG6 | Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG3 | Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG2 | Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG13 | Rebecca Foulger commented on gene: ALG13: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHIES, EPILEPTIC ENCEPHALOPATHY and Probable for CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG12 | Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG11 | Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALG1 | Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDOA | Rebecca Foulger commented on gene: ALDOA: DDG2P rating in original PAGE list: Confirmed for GLYCOGEN STORAGE DISEASE XII | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH7A1 | Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH5A1 | Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH4A1 | Rebecca Foulger reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH3A2 | Rebecca Foulger reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH1A3 | Rebecca Foulger reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALDH18A1 | Rebecca Foulger commented on gene: ALDH18A1: DDG2P rating in original PAGE list: Confirmed for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Confirmed for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, and Confirmed for CUTIS LAXA, AUTOSOMAL DOMINANT 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AKT3 | Rebecca Foulger commented on gene: AKT3: DDG2P rating in original PAGE list: Probable for HEMIMEGALENCEPHALY AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AKT1 | Rebecca Foulger commented on gene: AKT1: DDG2P rating in original PAGE list: Confirmed for PROTEUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AKR1D1 | Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AK2 | Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AIPL1 | Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AIMP1 | Rebecca Foulger reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AIFM1 | Rebecca Foulger commented on gene: AIFM1: DDG2P rating in original PAGE list: Probable for COWCHOCK SYNDROME and Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AHI1 | Rebecca Foulger reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AHDC1 | Rebecca Foulger reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGRN | Rebecca Foulger reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGPS | Rebecca Foulger commented on gene: AGPS: DDG2P rating in original PAGE list: Confirmed for RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGPAT2 | Rebecca Foulger reviewed gene: AGPAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGL | Rebecca Foulger reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGK | Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AGA | Rebecca Foulger reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AFF4 | Rebecca Foulger commented on gene: AFF4: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AFF3 | Rebecca Foulger commented on gene: AFF3: DDG2P rating in original PAGE list: Probable for Skeletal dysplasia with severe neurological disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AFF2 | Rebecca Foulger reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADSL | Rebecca Foulger commented on gene: ADSL: DDG2P rating in original PAGE list: Confirmed for ADENYLOSUCCINASE DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADNP | Rebecca Foulger reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADGRG6 | Rebecca Foulger reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADGRG1 | Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADAMTSL2 | Rebecca Foulger reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADAMTS17 | Rebecca Foulger reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADAMTS10 | Rebecca Foulger reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ADA | Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACY1 | Rebecca Foulger reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACVRL1 | Rebecca Foulger reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACVR1 | Rebecca Foulger commented on gene: ACVR1: DDG2P rating in original PAGE list: Probable for FIBRODYSPLASIA OSSIFICANS PROGRESSIVA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACTG2 | Rebecca Foulger commented on gene: ACTG2: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACTG1 | Rebecca Foulger commented on gene: ACTG1: DDG2P rating in original PAGE list: Confirmed for BARAITSER-WINTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACTC1 | Rebecca Foulger reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACTA1 | Rebecca Foulger commented on gene: ACTA1: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACSL4 | Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACP5 | Rebecca Foulger reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACOX1 | Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACO2 | Rebecca Foulger reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACE | Rebecca Foulger reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACAT1 | Rebecca Foulger reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACAN | Rebecca Foulger commented on gene: ACAN: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY and Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACADVL | Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACADM | Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ACAD9 | Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABL1 | Rebecca Foulger commented on gene: ABL1: DDG2P rating in original PAGE list: Probable for Congenital heart defects and skeletal malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABHD5 | Rebecca Foulger reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCD4 | Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCC9 | Rebecca Foulger commented on gene: ABCC9: DDG2P rating in original PAGE list: Confirmed for CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCC8 | Rebecca Foulger commented on gene: ABCC8: DDG2P rating in original PAGE list: Confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCC6 | Rebecca Foulger reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCB7 | Rebecca Foulger commented on gene: ABCB7: DDG2P rating in original PAGE list: Confirmed for ANEMIA, SIDEROBLASTIC, WITH ATAXIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCB11 | Rebecca Foulger reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ABCA12 | Rebecca Foulger reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AASS | Rebecca Foulger reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AARS | Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AAAS | Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.8 | SUFU | Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Medulloblastoma' phenotype: Although this was listed in the 'Additional genes list', this phenotype beongs on the Gene2Phenotype cancer list and not the DD list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.8 | SUFU | Rebecca Foulger Phenotypes for gene: SUFU were changed from Medulloblastoma, desmoplastic 155255; Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | NTRK2 |
Konstantinos Varvagiannis gene: NTRK2 was added gene: NTRK2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 29100083; 15494731 Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886) Penetrance for gene: NTRK2 were set to unknown Review for gene: NTRK2 was set to GREEN Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886). Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile)]. Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083). NTRK2 is a probable DD gene in G2P associated with epilepsy and ID. As a result, this gene can be considered for inclusion in this panel as green. Sources: Literature |
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| Intellectual disability v2.579 | NTRK2 |
Konstantinos Varvagiannis gene: NTRK2 was added gene: NTRK2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 29100083; 28135719; 15494731; 27884935 Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886) Penetrance for gene: NTRK2 were set to unknown Review for gene: NTRK2 was set to GREEN gene: NTRK2 was marked as current diagnostic Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886). DD/ID are among the observed features. Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile who presented also with moderate to severe ID)]. Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083). A de novo missense variant (Gly344Cys) was observed in DDD study participant DDD4K.02136 (PMID: 28135719). NTRK2 is a probable DD gene in G2P associated with epilepsy and ID. The gene is included in gene panels for ID offered by different diagnostic laboratories (incl. Radboudumc). As a result, this gene can be considered for inclusion in this panel as green (rather than amber). Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Early onset or syndromic epilepsy v0.1488 | ALDH7A1 | Ellen McDonagh commented on gene: ALDH7A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | ALDH7A1 | Ellen McDonagh Tag treatable tag was added to gene: ALDH7A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.24 | PAX6 | Ivone Leong commented on gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.24 | PAX6 | Ivone Leong Publications for gene: PAX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Classified gene: GLI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GLI3 is confirmed to be associated with Pallister Hall syndrome in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with Pallister Hall syndrome with growth hormone deficiency who have variants in the GLI3 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.22 | GLI3 | Ivone Leong Publications for gene: GLI3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.21 | FGFR1 | Ivone Leong Classified gene: FGFR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.21 | FGFR1 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. FGFR1 is confirmed to be associated with the listed phenotypes in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25), Hypogonadotropic hypogonadism (Version 1.15) and Holoprosencephaly (Version 1.6) panels. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the FGFR1 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.21 | FGFR1 | Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.20 | FGFR1 | Ivone Leong Publications for gene: FGFR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.19 | FGF8 | Ivone Leong Classified gene: FGF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.19 | FGF8 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FGF8 is confirmed to be associated with Hypogonadotropic hypogonadism 6 with or without anosmia on OMIM only. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients with Hypogonadotropic hypogonadism who have variants in FGF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.19 | FGF8 | Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.18 | FGF8 | Ivone Leong Publications for gene: FGF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | TMEM94 |
Konstantinos Varvagiannis gene: TMEM94 was added gene: TMEM94 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM94 were set to Global developmental delay; Intellectual disability; Abnormal heart morphology; Abnormality of head or neck Penetrance for gene: TMEM94 were set to Complete Review for gene: TMEM94 was set to AMBER Added comment: Stephen et al. (https://doi.org/10.1016/j.ajhg.2018.11.001) report on 10 individuals from 6 unrelated families with bi-allelic truncating TMEM94 variants. The common phenotype consisted of global DD/ID, similar facial features as well as the presence of congenital heart defects (in all but one). Speech as well as motor delay and learning difficulties were universal features. ID is mentioned in the abstract, explicitly specified for one individual and implied for some of the rest. Overall 6 different LoF variants are reported. Reduced expression was demonstrated while gene expression microarray and RNA sequencing expression studies demonstrated dysregulation of several essential genes. Using a CRISPR/Cas9 mouse model loss of Tmem94 was shown to be embryonically lethal with craniofacial, cardiac anomalies as well as abnormal neuronal migration pattern observed in homozygous mutant mice embryos. TMEM94 is not associated with any phenotype in G2P nor in OMIM. As a result this gene can be considered for inclusion in this panel probably as amber (or green). Sources: Literature |
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| Pituitary hormone deficiency v0.17 | BMP4 | Ivone Leong reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.17 | BMP2 | Ivone Leong Publications for gene: BMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.16 | BMP4 | Ivone Leong Publications for gene: BMP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.15 | SOX3 | Ivone Leong Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000) to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.14 | SOX3 | Ivone Leong Classified gene: SOX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.14 | SOX3 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SOX3 is confirmed to be associated with Mental retardation, X-linked, with isolated growth hormone deficiency and X-linked panhypopituitarism in OMIM and Gene2Phenotype. It is also a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have variants in SOX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.14 | SOX3 | Ivone Leong Gene: sox3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.13 | SOX3 | Ivone Leong Publications for gene: SOX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Classified gene: SOX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.12 | SOX2 | Ivone Leong Gene: sox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.11 | SOX2 | Ivone Leong Publications for gene: SOX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.10 | GHRHR | Ivone Leong commented on gene: GHRHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.10 | GHRHR | Ivone Leong Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | GH1 | Ivone Leong commented on gene: GH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.48 | PRSS1 | Ellen McDonagh Added comment: Comment on mode of pathogenicity: Seems to be a gain-of-function mechanism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.48 | PRSS1 | Ellen McDonagh Mode of pathogenicity for gene: PRSS1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | BTK | Ivone Leong Added comment: Comment on publications: BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | BTK | Ivone Leong Publications for gene: BTK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.47 | CPA1 | Louise Daugherty Phenotypes for gene: CPA1 were changed from chronic pancreatitis; hereditary chronic pancreatitis to Chronic pancreatitis; Hereditary chronic pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.46 | CFTR | Ellen McDonagh Phenotypes for gene: CFTR were changed from {Pancreatitis, hereditary} 167800 to {Pancreatitis, hereditary} 167800; Cystic fibrosis 219700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | KCNQ1 | Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | KCNQ1 | Ivone Leong Added comment: Comment on list classification: Demoted from green to amber based on literature evidence. KCNQ1 is not associated with pituitary hormone deficiency in OMIM or Gene2Phenotype. PMID: 29097701 found that 3 unrelated families (2 Finnish and 1 Argentinian) with pituitary hormone deficiency and maternally inherited gingival fibromatosis have missense variants in the KCNQ1 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | KCNQ1 | Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | KCNQ1 | Ivone Leong Tag watchlist tag was added to gene: KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited white matter disorders v1.25 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy, adult onset v0.0 |
Ellen McDonagh Added Panel White matter disorders – adult onset Set panel types to: GMS Rare Disease |
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| Intellectual disability v2.579 | PUS3 | Konstantinos Varvagiannis reviewed gene: PUS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27055666, 30308082; Phenotypes: ?Mental retardation, autosomal recessive 55 (MIM 617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PUS3 | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | BTK |
Ivone Leong gene: BTK was added gene: BTK was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) |
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| Pituitary hormone deficiency v0.7 | TBX19 |
Ivone Leong gene: TBX19 was added gene: TBX19 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400) |
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| Pituitary hormone deficiency v0.7 | SLC20A1 |
Ivone Leong gene: SLC20A1 was added gene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to Unknown Phenotypes for gene: SLC20A1 were set to No OMIM number |
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| Pituitary hormone deficiency v0.7 | SLC15A4 |
Ivone Leong gene: SLC15A4 was added gene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: SLC15A4 was set to Unknown Phenotypes for gene: SLC15A4 were set to No OMIM number |
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| Pituitary hormone deficiency v0.7 | KCNQ1 |
Ivone Leong gene: KCNQ1 was added gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ1 were set to 29097701 Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1 (192500); Pituitary hormone deficiency |
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| Pituitary hormone deficiency v0.7 | PITX2 |
Ivone Leong gene: PITX2 was added gene: PITX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX2 were set to Axenfeld-Rieger syndrome, type 1 (180500); Anterior segment dysgenesis 4 (137600) |
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| Pituitary hormone deficiency v0.7 | GNRHR |
Ivone Leong gene: GNRHR was added gene: GNRHR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110) |
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| Pituitary hormone deficiency v0.7 | GHSR |
Ivone Leong gene: GHSR was added gene: GHSR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925) |
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| Pituitary hormone deficiency v0.7 | GHRHR |
Ivone Leong gene: GHRHR was added gene: GHRHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHRHR was set to Unknown Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157) |
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| Pituitary hormone deficiency v0.7 | GHRH |
Ivone Leong gene: GHRH was added gene: GHRH was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHRH was set to Unknown Phenotypes for gene: GHRH were set to ?Isolated growth hormone deficiency due to defect in GHRF; No OMIM number |
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| Pituitary hormone deficiency v0.7 | GHR |
Ivone Leong gene: GHR was added gene: GHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271) |
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| Pituitary hormone deficiency v0.7 | GH1 |
Ivone Leong gene: GH1 was added gene: GH1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II (173100); Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781) |
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| Pituitary hormone deficiency v0.7 | FOXA2 |
Ivone Leong gene: FOXA2 was added gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: FOXA2 was set to Unknown Phenotypes for gene: FOXA2 were set to No OMIM number |
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| Pituitary hormone deficiency v0.7 | BMP2 |
Ivone Leong gene: BMP2 was added gene: BMP2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877) |
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| Pituitary hormone deficiency v0.7 | ZIC2 |
Ivone Leong gene: ZIC2 was added gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637) |
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| Pituitary hormone deficiency v0.7 | SIX3 |
Ivone Leong gene: SIX3 was added gene: SIX3 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170) |
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| Pituitary hormone deficiency v0.7 | PSTPIP1 |
Ivone Leong gene: PSTPIP1 was added gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly |
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| Pituitary hormone deficiency v0.7 | PTCH1 |
Ivone Leong gene: PTCH1 was added gene: PTCH1 was added to Pituitary hormone deficiency. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828) |
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| Pituitary hormone deficiency v0.7 | NODAL |
Ivone Leong gene: NODAL was added gene: NODAL was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100) |
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| Pituitary hormone deficiency v0.7 | FOXH1 |
Ivone Leong gene: FOXH1 was added gene: FOXH1 was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FOXH1 was set to Unknown Phenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number |
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| Intellectual disability v2.579 | PUS3 |
Konstantinos Varvagiannis gene: PUS3 was added gene: PUS3 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 27055666; 30308082 Phenotypes for gene: PUS3 were set to Global developmental delay; Intellectual disability; Microcephaly Penetrance for gene: PUS3 were set to Complete Review for gene: PUS3 was set to AMBER gene: PUS3 was marked as current diagnostic Added comment: PUS3 (Pseudouridylate synthase 3) is proposed as a gene related to ID in a recent publication on PUS7. Biallelic mutations in this gene are associated in OMIM with ?Mental retardation, autosomal recessive 55 (MIM 617051). PMID: 27055666 reports on 3 sisters from a consanguineous Saudi Arabian family with failure to thrive, DD/ID, microcephaly and some common (coarse) facial features. These individuals were homozygous for a stopgain mutation in the last exon of the gene. Pseudouridylation appeared to be defective (as has also been the case with other genes related to ID, eg. PUS7). PMID: 30308082 describes 1 individual born to consanguineous Palestinian parents, homozygous for a further LoF variant. Despite the localisation of this variant (again in the last exon of the gene) qPCR analyses were suggestive of degradation of the abnormal transcript possibly by NMD. The phenotype consisted of DD/ID and microcephaly. In a further publication (http://dx.doi.org/10.7124/bc.0008D6) Gulkovskyi et al. report on 2 siblings with ID, born to non-consanguineous Ukranian parents. Pathogenicity of the variant is disputed. [NM_031307.4:c.212A>G or p.(Tyr71Cys) is found in an apparent homozygous state in the sibs but was only found in their father. De novo occurence in the maternal allele is proposed although the possibility of microdeletion missed by aCGH or other plausible mechanisms are not considered. This variant has maximum pathogenicity scores in silico (not discussed) and has an allele frequency of 0.00006717 in gnomAD. The authors did not perform studies of pseudouridylation but examined for the presence of hypoproteinemia, observed in some disorders affecting this process). PUS3 is not associated with any phenotype in G2P but is associated with disease in OMIM. The gene is included in gene panels for ID offered by various diagnostic laboratories (including Radboudumc). PUS1 is included in the current panel as green and PUS7 has been suggested for inclusion. As a result, these gene can be considered for inclusion as amber (2 families) or green (given the supportive functional studies and/or the proposed role for the gene). Sources: Literature, Radboud University Medical Center, Nijmegen |
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| Inherited white matter disorders v1.24 |
Ellen McDonagh Panel name changed from Leukodystrophy - adult onset to Inherited white matter disorders List of related panels changed from Inherited white matter disorders to Leukodystrophy - adult onset |
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| Intellectual disability v2.579 | PBX1 | Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PBX1 | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PBX1 | Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PPP1R21 | Zornitza Stark reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30520571, 29808498, 2894097; Phenotypes: severe intellectual disability, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | TANGO2 |
Konstantinos Varvagiannis gene: TANGO2 was added gene: TANGO2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 29369572; 30245509 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 Penetrance for gene: TANGO2 were set to Complete Review for gene: TANGO2 was set to GREEN gene: TANGO2 was marked as current diagnostic Added comment: Biallelic pathogenic variants in TANGO2 cause Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 PMIDs: 29369572 and 30245509 are both reviews on the disorder. Epilepsy is a feature in 70-80% of the patients (29 individuals reviewed in the second article). According to PMID: 29369572 "Seizures are observed outside the periods of crises in more than 75% of individuals". PMID 30245509 notes that seizures occurred in a small minority of patients only during periods of crises secondary to hypoglycemia or associated with arrhythmia. TANGO2 is included in gene panels for epilepsy offered by (few) diagnostic laboratories. The gene is already present in the ID and mitochondrial disorders panels as green. As a result, this gene can also be considered for inclusion in this panel as green. Sources: Literature |
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| Intellectual disability v2.579 | METTL23 |
Konstantinos Varvagiannis gene: METTL23 was added gene: METTL23 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL23 were set to 24501276; 24626631 Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 (MIM 615942) Penetrance for gene: METTL23 were set to Complete Review for gene: METTL23 was set to GREEN gene: METTL23 was marked as current diagnostic Added comment: Biallelic pathogenic variants in METTL23 cause Mental retardation, autosomal recessive 44 (MIM 615942). Reiff et al. (PMID: 24501276) report on a consanguineous pedigree of Yemeni origin with 7 individuals presenting intellectual disability. Clinical details are provided for 3 subjects from one branch of the family. Findings included moderate (2/3) or severe (1/3) ID, seizures (2/3) and some common facial features. Seizures were not observed in individuals from other branch of the family. The affected individuals were homozygous for a 4-bp deletion. Bernkopf et al. (PMID: 24626631) report on a consanguineous family from Pakistan with 2 affected sibs as well as a non-consanguineous family from Austria with 4 affected sibs. The parents in the latter family originated from a small - geographically isolated - village. Individuals from the Pakistani family were homozygous for a nonsense variant, while the sibs from the Austrian family for a frameshift variant. Mild ID was noted in all. In total 3 different LoF variants have been reported. Extensive functional studies have been performed in both articles. METTL23 (methyltransferase like 23) is expressed at low-to-moderate levels in the developping human brain. Bernkopf et al. suggest that METTL23 is indeed a methyltransferase. The gene has 7 transcripts of which one is non-coding. 3 transcripts encode isoform 1 and 3 other encode isoform 2. The variant reported by Reiff et al. affects the coding region of 3 (of the 6 coding) transcripts (corresponding to isoform 1) and the 5'-UTR of the other 3 transcripts. It is however shown that this first coding exon (specific to isoform 1) is expressed in the developing human brain, though at lower levels than downstream exons common to both isoforms. In addition, only isoform 1 appears to be conserved in most other species. The variants described by Bernkopf et al. affect all 6 coding trancripts and as a result both isoforms. [However, the individuals reported by Bernkopf et al. were less severely affected compared to those reported by Reiff et al.] Nonsense-mediated decay appeared unlikely since mRNA levels for both isoforms in lymphoblasts from affected individuals were similar to controls (upon qRT-PCR) [The specific nonsense variant tested would be expected to be subject to NMD given its localization]. METTL23 is not associated with any phenotype in G2P. This gene is included in gene panels for intellectual disability offered by various diagnostic laboratories. As a result, METTL23 can be considered for inclusion in the ID panel as green (or amber). Sources: Literature |
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| Limb disorders v0.359 | CCND2 | Eleanor Williams Added comment: Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.359 | CCND2 | Eleanor Williams Mode of pathogenicity for gene: CCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.358 | TBX4 | Eleanor Williams Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome to Ischiocoxopodopatellar syndrome 147891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.357 | RBM8A | Eleanor Williams Phenotypes for gene: RBM8A were changed from Thrombocytopenia-absent radius syndrome, 274000; Thrombocytopenia-absent radius syndrome 274000 to Thrombocytopenia-absent radius syndrome, 274000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.356 | RAB23 | Eleanor Williams Phenotypes for gene: RAB23 were changed from Carpenter syndrome 201000; Polydactyly to Carpenter syndrome 201000; Polydactyly; ACROCEPHALOPOLYSYNDACTYLY TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.355 | PTHLH | Eleanor Williams Phenotypes for gene: PTHLH were changed from Brachydactyly, type E2 to Brachydactyly, type E2 613382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.354 | LMX1B | Eleanor Williams Phenotypes for gene: LMX1B were changed from Nail-patella syndrome to Nail-patella syndrome 161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.353 | HDAC4 | Eleanor Williams commented on gene: HDAC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.353 | BHLHA9 | Eleanor Williams Publications for gene: BHLHA9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | MAST1 |
Konstantinos Varvagiannis gene: MAST1 was added gene: MAST1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST1 were set to 30449657; 23934111 Phenotypes for gene: MAST1 were set to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures Penetrance for gene: MAST1 were set to unknown Review for gene: MAST1 was set to GREEN Added comment: PMID: 30449657 reports on 6 unrelated individuals with de novo mutations in MAST1. All these 6 individuals were investigated for a strikingly similar phenotype of enlarged corpus callosum (CC), cerebellar hypoplasia, cortical malformation with associated DD/ID. Seizures were a feature in 2/6 (one further had EEG anomalies without clinical seizures). Three of them harbored an in-frame deletion of 1 amino-acid (3 different indels reported - all in a specific domain) while 3 others had a missense variant (NM_014975.2:c.1549G>A or p.Gly517Ser). Mast1 has embryonic expression in murine models with postnatal decrease. Similarly qPCR of human fetal brain cDNA demonstrated expression at 13 and 22 gestational weeks. A murine model for L278del recapitulated the brain (incl. CC) and cerebellar phenotype while Mast1 knockout mice do not present similar morphological defects. While Western blot in murine brain lysates demonstrated absence of Mast1 in knockout and reduction in the L278del, Mast1 transcript levels for L278del were similar to wildtype. Other Mast proteins (Mast1 & Mast2) were significantly reduced upon western blot while this was not reflected in their mRNA levels, suggesting a dominant-negative effect, at least for the L278del. 4 additional individuals with somewhat different phenotype consisting DD/ID and microcephaly/autism are described in the supplement. All 4 had de novo missense variants but did not display the CC-cerebral and cerebellar anomalies. Four different (additional to Gly517Ser) missense SNVs were observed. Several additional individuals exist in the denovo-db (among others DDD participant DDD4K.02310 published in 28135719, 25666757 - McMichael et al. commented in the article, 27479843, etc.). [http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=Mast1] Epilepsy was a feature in 4/10 individuals (with an additional one with EEG anomalies without clinical seizures). One further individual from PMID:23934111 (in denovo-db) had seizures. As the authors comment (and as evident from the 6+4 reported patients) the related neurodevelopmental phenotype may be more complex. MAST1 is not related to any phenotype in G2P, nor in OMIM. As a result, this gene can be considered for inclusion in this panel as green (or amber). Sources: Literature |
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| Intellectual disability v2.579 | MAST1 |
Konstantinos Varvagiannis gene: MAST1 was added gene: MAST1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST1 were set to 30449657; 28135719; 25666757; 27479843 Phenotypes for gene: MAST1 were set to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures Penetrance for gene: MAST1 were set to unknown Review for gene: MAST1 was set to GREEN gene: MAST1 was marked as current diagnostic Added comment: PMID: 30449657 reports on 6 unrelated individuals with de novo mutations in MAST1. All these 6 individuals were investigated for a strikingly similar phenotype of enlarged corpus callosum (CC), cerebellar hypoplasia, cortical malformation with associated DD/ID. Seizures were a feature in 2/6 (one further had EEG anomalies without clinical seizures). Three of them harbored an in-frame deletion of 1 amino-acid (3 different indels reported - all in a specific domain) while 3 others had a missense variant (NM_014975.2:c.1549G>A or p.Gly517Ser). Mast1 has embryonic expression in murine models with postnatal decrease. Similarly qPCR of human fetal brain cDNA demonstrated expression at 13 and 22 gestational weeks. A murine model for L278del recapitulated the brain (incl. CC) and cerebellar phenotype while Mast1 knockout mice do not present similar morphological defects. While Western blot in murine brain lysates demonstrated absence of Mast1 in knockout and reduction in the L278del, Mast1 transcript levels for L278del were similar to wildtype. Other Mast proteins (Mast1 & Mast2) were significantly reduced upon western blot while this was not reflected in their mRNA levels, suggesting a dominant-negative effect, at least for the L278del. 4 additional individuals with somewhat different phenotype consisting DD/ID and microcephaly/autism are described in the supplement. All 4 had de novo missense variants but did not display the CC-cerebral and cerebellar anomalies. Four different (additional to Gly517Ser) missense SNVs were observed. Several additional individuals exist in the denovo-db (among others DDD participant DDD4K.02310 published in 28135719, 25666757 - McMichael et al. commented in the article, 27479843, etc.). [http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=Mast1] Epilepsy was a feature in 4/10 individuals (with an additional one with EEG anomalies without clinical seizures). One further individual from PMID:23934111 (in denovo-db) had seizures. As the authors comment (and as evident from the 6+4 reported patients) the related neurodevelopmental phenotype may be more complex. MAST1 is not related to any phenotype in G2P, nor in OMIM. The gene is included in gene panels for ID offered by different diagnostic laboratories. As a result, this gene can be considered for inclusion in this panel as green. Sources: Literature |
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| Limb disorders v0.352 | BHLHA9 | Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI back to biallelic only, as the duplication of this gene in SPLIT HAND AND FOOT MALFORMATION seems to be more of a susceptibility factor. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.352 | BHLHA9 | Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | RPIA |
Konstantinos Varvagiannis gene: RPIA was added gene: RPIA was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 14988808; 20499043; 28801340; 30088433 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611 Penetrance for gene: RPIA were set to unknown Review for gene: RPIA was set to AMBER Added comment: Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611. PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T / NP_653164.2:p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG / NP_653164.2:p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548]. PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis. PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis. 2 of the 3 patients described in the literature presented seizures. As a result this gene can be considered for inclusion in this panel as amber. Sources: Literature |
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| Intellectual disability v2.579 | RPIA |
Konstantinos Varvagiannis gene: RPIA was added gene: RPIA was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 14988808; 20499043; 28801340; 30088433 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611. Penetrance for gene: RPIA were set to unknown Review for gene: RPIA was set to GREEN gene: RPIA was marked as current diagnostic Added comment: Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611. PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T / NP_653164.2:p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG / NP_653164.2:p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548]. PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis. PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis. RPIA is included in gene panels for intellectual disability offered by various diagnostic laboratories. As a result this gene can be considered for inclusion in this panel as green (or amber). Sources: Literature |
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| Intellectual disability v2.579 | PUS7 | Konstantinos Varvagiannis reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, Microcephaly, Short stature, Behavioral abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PUS7 | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | PUS7 |
Konstantinos Varvagiannis gene: PUS7 was added gene: PUS7 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PUS7 were set to Intellectual disability; Microcephaly; Short stature; Behavioral abnormality Penetrance for gene: PUS7 were set to Complete Review for gene: PUS7 was set to GREEN gene: PUS7 was marked as current diagnostic Added comment: de Brouwer et al. (https://doi.org/10.1016/j.ajhg.2018.10.026) report on 6 individuals from 3 unrelated families homozygous for truncating variants in PUS7. The common phenotype consisted of ID with speech delay, microcephaly, short stature as well as aggressive behavior. One frameshift, one nonsense and one intragenic deletion affecting the penultimate exon of PUS7 were private respectively to each family. qPCR demonstrated reduction of mRNA levels for the two first variants, with absence of the normally sized protein upon Western blot for the first one. The deletion, not identified due to its small size by aCGH, was found in the exome analysis and confirmed by MAQ. RT-PCR demonstrated the absence of the respective exon in mRNA. The deletion resulted in introduction of a stop codon in the last exon and mRNA expression levels were shown to be normal. Western blot demonstrated absence of a normally sized protein. (As a result, truncating mutations in the last exon may also be deleterious). Functional studies demonstrated defective tRNA and mRNA pseudouridylation. Drosophila knockouts recapitulated the behavioral phenotype. Biallelic mutations in PUS1 and PUS3 have been reported in individuals with intellectual disability (as well as some other features noted in PUS7-related disorder). PUS7 is included in the gene panel for ID offered by Radboud UMC (among the principal authors of the study). Therefore this gene can be considered for inclusion in this panel as green (rather than amber). Sources: Literature |
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| Early onset dystonia v1.68 | DLAT | Chris Buxton reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 20022530, 16049940; Phenotypes: episodic dystonia, pyruvate dehydrogenase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.68 | BCAP31 | Chris Buxton reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: None; Publications: 24011989; Phenotypes: Intellectual disability, dystonia, sensorineural deafness; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | OTX2 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | OTX2 | Ivone Leong commented on gene: OTX2: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | GLI2 | Ivone Leong commented on gene: GLI2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.6 | GLI2 | Ivone Leong Publications for gene: GLI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.5 | WDR11 |
Ivone Leong gene: WDR11 was added gene: WDR11 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858) |
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| Pituitary hormone deficiency v0.5 | RBM28 |
Ivone Leong gene: RBM28 was added gene: RBM28 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM28 were set to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) |
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| Pituitary hormone deficiency v0.5 | POLR3A |
Ivone Leong gene: POLR3A was added gene: POLR3A was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) |
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| Pituitary hormone deficiency v0.5 | HNRNPU |
Ivone Leong gene: HNRNPU was added gene: HNRNPU was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391) |
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| Pituitary hormone deficiency v0.5 | HHIP |
Ivone Leong gene: HHIP was added gene: HHIP was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: HHIP was set to Unknown Phenotypes for gene: HHIP were set to No OMIM number |
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| Pituitary hormone deficiency v0.5 | GPR161 |
Ivone Leong gene: GPR161 was added gene: GPR161 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: GPR161 was set to Unknown Phenotypes for gene: GPR161 were set to No OMIM number |
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| Pituitary hormone deficiency v0.5 | CDON |
Ivone Leong gene: CDON was added gene: CDON was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226) |
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| Pituitary hormone deficiency v0.5 | TGIF1 |
Ivone Leong gene: TGIF1 was added gene: TGIF1 was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946) |
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| Pituitary hormone deficiency v0.5 | PROKR2 |
Ivone Leong gene: PROKR2 was added gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200) |
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| Pituitary hormone deficiency v0.5 | CHD7 |
Ivone Leong gene: CHD7 was added gene: CHD7 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD7 were set to CHARGE syndrome (214800); Hypogonadotropic hypogonadism 5 with or without anosmia (612370) |
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| Pituitary hormone deficiency v0.5 | ZSWIM6 |
Ivone Leong gene: ZSWIM6 was added gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865) |
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| Pituitary hormone deficiency v0.5 | TCF7L1 |
Ivone Leong gene: TCF7L1 was added gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: TCF7L1 was set to Unknown Phenotypes for gene: TCF7L1 were set to No OMIM number |
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| Pituitary hormone deficiency v0.5 | SHH |
Ivone Leong gene: SHH was added gene: SHH was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945) |
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| Pituitary hormone deficiency v0.5 | PNPLA6 |
Ivone Leong gene: PNPLA6 was added gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive (612020) |
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| Pituitary hormone deficiency v0.5 | IGSF1 |
Ivone Leong gene: IGSF1 was added gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888) |
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| Pituitary hormone deficiency v0.5 | BMP4 |
Ivone Leong gene: BMP4 was added gene: BMP4 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932) |
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| Pituitary hormone deficiency v0.5 | ARNT2 |
Ivone Leong gene: ARNT2 was added gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926) |
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| Pituitary hormone deficiency v0.5 | PAX6 |
Ivone Leong gene: PAX6 was added gene: PAX6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia (106210) |
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| Pituitary hormone deficiency v0.5 | GLI3 |
Ivone Leong gene: GLI3 was added gene: GLI3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510) |
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| Pituitary hormone deficiency v0.5 | FGFR1 |
Ivone Leong gene: FGFR1 was added gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150) |
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| Pituitary hormone deficiency v0.5 | FGF8 |
Ivone Leong gene: FGF8 was added gene: FGF8 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702) |
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| Pituitary hormone deficiency v0.5 | SOX3 |
Ivone Leong gene: SOX3 was added gene: SOX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000) |
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| Pituitary hormone deficiency v0.5 | SOX2 |
Ivone Leong gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900) |
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| Pituitary hormone deficiency v0.5 | GLI2 |
Ivone Leong gene: GLI2 was added gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829) |
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| Hereditary spastic paraplegia v1.110 | ATXN7_CAG | Louise Daugherty Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7 164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.109 | ATXN3_CAG | Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.68 | ATXN3_CAG | Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.48 | ATXN3_CAG | Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.579 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.148 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic dystrophies v1.5 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.135 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.64 | ATXN1_CAG | Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.108 | CACNA1A_CAG | Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.46 | CACNA1A_CAG | Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.67 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.47 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.107 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic dystrophies v1.4 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.134 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.147 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.66 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.578 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.46 | ATXN10_ATTCT | Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.45 | ATXN1_CAG | Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.44 | ATXN1_CAG | Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.106 | ATXN1_CAG | Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.63 | ATXN1_CAG | Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.577 | ATXN7_CAG | Louise Daugherty Classified STR: ATXN7_CAG as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.577 | ATXN7_CAG | Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.577 | ATXN7_CAG | Louise Daugherty Str: atxn7_cag has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.576 | PPP1R21 |
Konstantinos Varvagiannis gene: PPP1R21 was added gene: PPP1R21 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R21 were set to 29808498; 28940097 Phenotypes for gene: PPP1R21 were set to Generalized hypotonia; Feeding difficulties; Profound global developmental delay; Abnormality of the face; Abnormality of vision; Abnormal heart morphology; Abnormality of the respiratory system; Hepatosplenomegaly Penetrance for gene: PPP1R21 were set to Complete Review for gene: PPP1R21 was set to GREEN Added comment: Biallelic pathogenic variants in PPP1R21 have been reported so far in 9 individuals from 7 unrelated families. All (7 different) variants reported to date are truncating. PMID: 29808498 is the first detailed clinical description on the related phenotype. 3 individuals from 3 families are reported. One of these individuals was previously included in a larger patient cohort (in PMID: 28940097). In a subsequent further publication, Rehman et al. (https://doi.org/10.1002/humu.23694) describe 6 additional patients from 4 unrelated consanguineous families. Again, these individuals were homozygous for truncating mutations. The authors summarize the findings in their patients as well as the previously reported ones. Common features included feeding difficulties, hypotonia with severe global DD and mildly coarsened facial features (all were observed in 9/9), visual anomalies (8/9), respiratory problems (7/9), cardiac anomalies (4/9) and hepato-/splenomegaly (3/7). Brain MRI anomalies were observed in the majority. DD was severe in all and ID (which is not explicitly mentioned) was evident from the clinical description of several individuals (eg. in PMID: 29808498). In total 7 loss-of-function variants have been reported. The authors in the first article, underscore the possibility of less severe phenotypes associated to biallelic missense variants (although none has been reported so far). Functional studies have shown great reduction (but not complete absence) of PPP1R21 mRNA levels in patient fibroblasts compared to controls. A role of PPP1R21 in the endosomal-lysosomal function is demonstrated in line with the presence of myelin figures in patient fibroblasts as well as some phenotypic similarities to neurometabolic/lysosomal storage disorders. Most variants reported in the most recent publication except one (NM_001135629.2:c.1607dupT) seem to affect all 3 PPP1R21 isoforms (which also seems to be the case for previously published variants). c.1607dupT appears to be the single truncating variant affecting 2 (of 3) isoforms. This variant was however shown to have severely reduced expression in fibroblasts upon qPCR, absent protein staining, and increase in myelin figures. The protein is expressed in embryonic mouse cortex. Overall, this gene can be considered for inclusion in this panel as green (or amber). Sources: Literature |
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| Hereditary spastic paraplegia v1.105 | TBP_CAG | Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.43 | TBP_CAG | Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.45 | TBP_CAG | Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.104 | PPP2R2B_CAG | Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.62 | PPP2R2B_CAG | Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.26 | NOP56_GGCCTG | Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.42 | NOP56_GGCCTG | Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.65 | JPH3_CTG | Arianna Tucci Phenotypes for STR: JPH3_CTG were changed from to Huntington disease-like 2 606438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.146 | HTT_CAG | Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.41 | HTT_CAG | Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.103 | HTT_CAG | Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.145 | HTT_CAG | Arianna Tucci Marked STR: HTT_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.145 | HTT_CAG | Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.44 | CSTB_CCCCGCCCCGCG | Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | CSTB_CCCCGCCCCGCG | Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.145 | CSTB_CCCCGCCCCGCG | Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.19 | DMPK_CTG | Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.75 | DMPK_CTG | Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.74 | FXN_GAA | Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.102 | FXN_GAA | Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.44 | FXN_GAA | Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.4 | OTX2 | Ivone Leong Publications for gene: OTX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Added comment: Comment when marking as ready: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | OTX2 | Ivone Leong Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | PROP1 | Ivone Leong commented on gene: PROP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | POU1F1 | Ivone Leong commented on gene: POU1F1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | LHX4 | Ivone Leong commented on gene: LHX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.3 | LHX4 | Ivone Leong Publications for gene: LHX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.2 | LHX3 | Ivone Leong commented on gene: LHX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.101 | CACNA1A_CAG | Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.2 | HESX1 | Ivone Leong commented on gene: HESX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.2 | HESX1 | Ivone Leong Publications for gene: HESX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.43 | CACNA1A_CAG | Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.100 | ATXN7_CAG | Arianna Tucci Phenotypes for STR: ATXN7_CAG were changed from to Spinocerebellar ataxia 7 164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.1 | PROP1 |
Ivone Leong gene: PROP1 was added gene: PROP1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600) |
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| Pituitary hormone deficiency v0.1 | LHX3 |
Ivone Leong gene: LHX3 was added gene: LHX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750) |
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| Pituitary hormone deficiency v0.1 | HESX1 |
Ivone Leong gene: HESX1 was added gene: HESX1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230) |
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| Pituitary hormone deficiency v0.1 | POU1F1 |
Ivone Leong gene: POU1F1 was added gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038) |
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| Pituitary hormone deficiency v0.1 | OTX2 |
Ivone Leong gene: OTX2 was added gene: OTX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125) |
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| Pituitary hormone deficiency v0.1 | LHX4 |
Ivone Leong gene: LHX4 was added gene: LHX4 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700) |
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| Hereditary spastic paraplegia v1.99 | ATXN3_CAG | Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.43 | ATXN3_CAG | Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.42 | ATXN3_CAG | Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.64 | ATXN3_CAG | Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.40 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.98 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.41 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.41 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.63 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.39 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.97 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.40 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.40 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.39 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.61 | ATXN1_CAG | Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.38 | ATXN10_ATTCT | Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.96 | ATXN10_ATTCT | Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.38 | ATXN10_ATTCT | Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1487 | ATN1_CAG | Arianna Tucci Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.60 | ATN1_CAG | Arianna Tucci Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.66 | AR_CAG | Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.10 | AR_CAG | Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.45 | CFTR | Ellen McDonagh Classified gene: CFTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.45 | CFTR | Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted from Amber to Green, for the biallelic mode of inheritance, due to comments from Dr Ellen Thomas that exocrine pancreas dysfunction is an indication for diagnostic Cystic Fibrosis testing, and therefore this panel should cover the CFTR gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.45 | CFTR | Ellen McDonagh Gene: cftr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.44 | CFTR | Ellen McDonagh Added comment: Comment on mode of inheritance: Changed to the biallelic form. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.44 | CFTR | Ellen McDonagh Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.133 | ABL1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants in PMID:28288113). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.133 | ABL1 | Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.132 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.132 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.131 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Skeletal dysplasia. Sources: Literature missense tags were added to gene: ABL1. Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602 Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: Added to Skeletal dysplasia panel with Amber rating as suggested by Helen Brittain. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. They report 2 variants in 4 families (6 individuals). Helen Brittain, clinical fellow, notes that: "the broader skeletal manifestations (scoliosis / pectus) are classically thought of as part of the Marfan / FTAAD spectrum rather than a skeletal dysplasia. Therefore do not think that skeletal dysplasia (or limb panel) would be the primary route for diagnosis here and would opt for amber on the basis that we need to see the phenotype across other cases first." Sources: Literature |
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| Ehlers Danlos syndrome with a likely monogenic cause v1.38 | ABL1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.38 | ABL1 | Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green as advised by Helen Brittain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.36 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Ehlers Danlos syndromes. Sources: Literature missense tags were added to gene: ABL1. Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602 Mode of pathogenicity for gene: ABL1 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: ABL1 was set to GREEN Added comment: Added ABL1 to EDS panel as requested by Helen Brittain, clinical fellow. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. 2 variants reported in 4 families, including c.734A>G (p.Tyr245Cys) found to occur in 3 famililes. Included on this EDS panel on advice from Helen Brittain: the kyphosis / scoliosis / velvety skin could overlap with the EDS syndromes panel as a mimic of kyphoscoliotic EDS. Sources: Literature |
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| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger commented on gene: ABL1: Added missense tag based on PMID:28288113. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Tag missense tag was added to gene: ABL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.35 | ABL1 | Rebecca Foulger Phenotypes for gene: ABL1 were changed from Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations syndrome, 617602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.81 | ABL1 | Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767) to Congenital heart defects and skeletal malformations syndrome, 617602; Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.80 | ABL1 | Rebecca Foulger commented on gene: ABL1: Added 'missense' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.80 | ABL1 | Rebecca Foulger Tag missense tag was added to gene: ABL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.80 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.80 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Gene was added by Chris Buxton based on evidence in PMID:28288113. Although CB rated the gene Red, mild aortic root dilation/mild coarctation of the aorta is seen in patients from 3 families. Therefore phenotype is relevant to panel and sufficient unrelated cases to support diagnostic rating, as agreed by Helen Brittain, clinical fellow. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.80 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.79 | ABL1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.79 | ABL1 | Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.78 | ABL1 | Rebecca Foulger commented on gene: ABL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pancreatitis v0.43 | CFTR | Ellen Thomas reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1486 | NDUFS6 | Sarah Leigh Marked gene: NDUFS6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1486 | NDUFS6 | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least two homozygous variants identified in two unrelated cases with abnormal, slowly drifting eye movements, rolling nystagmus, thought to indicate possible seizures, as well as overt seizures occurred on day 1 of life (PMID: 15372108). Other variants reported, but no association with epilepsy, seizures or convulsions could be found. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1486 | NDUFS6 | Sarah Leigh Gene: ndufs6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1486 | NDUFS6 | Sarah Leigh Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency 252010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1485 | NDUFS6 | Sarah Leigh Publications for gene: NDUFS6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1484 | NDUFS6 | Sarah Leigh Mode of inheritance for gene: NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1483 | NDUFS4 | Sarah Leigh Marked gene: NDUFS4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1483 | NDUFS4 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three biallelic variants reported in unrelated cases in which seizures are a phenotypic feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1483 | NDUFS4 | Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1483 | NDUFS4 | Sarah Leigh Classified gene: NDUFS4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1483 | NDUFS4 | Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1482 | NDUFS4 | Sarah Leigh Mode of inheritance for gene: NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1481 | NDUFS4 | Sarah Leigh Publications for gene: NDUFS4 were set to 28371352; 27671926; 27079373; 19107570; 9463323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.9 | AR_CAG | Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.65 | AR_CAG | Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.62 | JPH3_CTG | Arianna Tucci Repeated Sequence for JPH3_CTG was changed from CAG to CTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1480 | NDUFS4 | Sarah Leigh Phenotypes for gene: NDUFS4 were changed from to Leigh syndrome 256000; Mitochondrial complex I deficiency 252010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.59 | ATN1_CAG | Arianna Tucci Classified STR: ATN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.59 | ATN1_CAG | Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1479 | NDUFS4 | Sarah Leigh Publications for gene: NDUFS4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1478 | NDUFA11 | Sarah Leigh Classified gene: NDUFA11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1478 | NDUFA11 | Sarah Leigh Added comment: Comment on list classification: Based on single case and the observation that not all the carriers manifested with convulsive disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1478 | NDUFA11 | Sarah Leigh Gene: ndufa11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1477 | NDUFA11 | Sarah Leigh Marked gene: NDUFA11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1477 | NDUFA11 | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one homozygous variant identified in a large consanguineous Bedoin family, convulsive disorder appeared at 4 months in one patient (PMID 18306244). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1477 | NDUFA11 | Sarah Leigh Gene: ndufa11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1477 | NDUFA11 | Sarah Leigh Publications for gene: NDUFA11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1476 | NDUFA11 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1476 | NDUFA11 | Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency 252010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1476 | NDUFA11 | Sarah Leigh Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1475 | LIPT2 | Sarah Leigh Marked gene: LIPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1475 | LIPT2 |
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in one case in which seizures are a phenotypic feature. |
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| Early onset or syndromic epilepsy v0.1475 | LIPT2 | Sarah Leigh Gene: lipt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1475 | LIPT2 | Sarah Leigh Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1474 | LIPT2 | Sarah Leigh Mode of inheritance for gene: LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1473 | LIPT2 | Sarah Leigh Publications for gene: LIPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | LIPT2 | Sarah Leigh Tag watchlist tag was added to gene: LIPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | KIAA1109 | Sarah Leigh Marked gene: KIAA1109 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | KIAA1109 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene (although not for seizures in Gen2Phen). At least 2 variants reported in Lithuanian siblings with Alkuraya-Kucinskas syndrome in which seizures were a phenotypic feature (PMID 29290337). Rare drosophila idividuals that are homozygous for a "tweek" variant (ortholog KIAA1109) survive to adulthood and are unable to walk or stand upright for long periods, plus they exhibit seizures, suggestive of severe neurological defects and similar to the reported phenotype of the Lithuanian siblings mentioned (PMID 19640479). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | KIAA1109 | Sarah Leigh Gene: kiaa1109 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | KIAA1109 | Sarah Leigh Tag watchlist tag was added to gene: KIAA1109. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1472 | KIAA1109 | Sarah Leigh Mode of inheritance for gene: KIAA1109 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1471 | KIAA1109 | Sarah Leigh Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome 617822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1470 | KIAA1109 | Sarah Leigh Publications for gene: KIAA1109 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1469 | KAT5 | Sarah Leigh Classified gene: KAT5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1469 | KAT5 | Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1469 | KAT5 | Sarah Leigh Gene: kat5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1468 | H3F3B | Sarah Leigh Classified gene: H3F3B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1468 | H3F3B | Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1468 | H3F3B | Sarah Leigh Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1467 | H3F3A | Sarah Leigh Classified gene: H3F3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1467 | H3F3A | Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1467 | H3F3A | Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1466 | H3F3A | Sarah Leigh Classified gene: H3F3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1466 | H3F3A | Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1465 | H3F3B | Sarah Leigh Classified gene: H3F3B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1465 | H3F3B | Sarah Leigh Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1464 | GRIN2D | Sarah Leigh Marked gene: GRIN2D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1464 | GRIN2D | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in five unrelated cases in which seizures are a phenotypic feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1464 | GRIN2D | Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | SMAD2 | Louise Daugherty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TSC2 | Louise Daugherty reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TSC1 | Louise Daugherty reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TGFBR2 | Louise Daugherty reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TGFBR1 | Louise Daugherty reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TGFB3 | Louise Daugherty reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | TGFB2 | Louise Daugherty reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | SMAD3 | Louise Daugherty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | SLC25A24 | Louise Daugherty reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | SERPINA1 | Louise Daugherty reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | PRKG1 | Louise Daugherty reviewed gene: PRKG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | MYLK | Louise Daugherty reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | MYH11 | Louise Daugherty reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | MFAP5 | Louise Daugherty reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | LOX | Louise Daugherty reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | HRAS | Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | HLA-DRB1 | Louise Daugherty reviewed gene: HLA-DRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | FOXE3 | Louise Daugherty reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | FLCN | Louise Daugherty reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | FBN1 | Louise Daugherty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | ELN | Louise Daugherty reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | COL5A1 | Louise Daugherty reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | COL3A1 | Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | CHST14 | Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | BTNL2 | Louise Daugherty reviewed gene: BTNL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | ADAMTS2 | Louise Daugherty reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.9 | ACTA2 | Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1464 | GRIN2D | Sarah Leigh Mode of inheritance for gene: GRIN2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1463 | GRIN2D | Sarah Leigh Added comment: Comment on phenotypes: Epileptic encephalopathy, early infantile, 46 617162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1463 | GRIN2D | Sarah Leigh Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46 617162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1462 | GRIN2D | Sarah Leigh Publications for gene: GRIN2D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1461 | GRIN2D | Sarah Leigh Classified gene: GRIN2D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1461 | GRIN2D | Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.8 | SMAD2 |
Louise Daugherty gene: SMAD2 was added gene: SMAD2 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: SMAD2 was set to |
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| Pneumothorax - familial v1.8 | TSC2 |
Louise Daugherty Source NHS GMS was added to TSC2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | TSC1 |
Louise Daugherty Source NHS GMS was added to TSC1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | TGFBR2 |
Louise Daugherty Source NHS GMS was added to TGFBR2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | TGFBR1 |
Louise Daugherty Source NHS GMS was added to TGFBR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | TGFB3 |
Louise Daugherty Source NHS GMS was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | TGFB2 |
Louise Daugherty Source NHS GMS was added to TGFB2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | SMAD3 | Louise Daugherty Source NHS GMS was added to SMAD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.8 | SLC25A24 |
Louise Daugherty gene: SLC25A24 was added gene: SLC25A24 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to |
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| Pneumothorax - familial v1.8 | SERPINA1 |
Louise Daugherty Source NHS GMS was added to SERPINA1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | PRKG1 |
Louise Daugherty gene: PRKG1 was added gene: PRKG1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: PRKG1 was set to |
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| Pneumothorax - familial v1.8 | MYLK |
Louise Daugherty gene: MYLK was added gene: MYLK was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: MYLK was set to |
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| Pneumothorax - familial v1.8 | MYH11 |
Louise Daugherty gene: MYH11 was added gene: MYH11 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: MYH11 was set to |
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| Pneumothorax - familial v1.8 | MFAP5 |
Louise Daugherty gene: MFAP5 was added gene: MFAP5 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: MFAP5 was set to |
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| Pneumothorax - familial v1.8 | LOX |
Louise Daugherty gene: LOX was added gene: LOX was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: LOX was set to |
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| Pneumothorax - familial v1.8 | HRAS |
Louise Daugherty gene: HRAS was added gene: HRAS was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: HRAS was set to |
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| Pneumothorax - familial v1.8 | HLA-DRB1 |
Louise Daugherty gene: HLA-DRB1 was added gene: HLA-DRB1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: HLA-DRB1 was set to |
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| Pneumothorax - familial v1.8 | FOXE3 |
Louise Daugherty gene: FOXE3 was added gene: FOXE3 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: FOXE3 was set to |
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| Pneumothorax - familial v1.8 | FLCN |
Louise Daugherty Source NHS GMS was added to FLCN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | FBN1 |
Louise Daugherty Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | ELN | Louise Daugherty Source NHS GMS was added to ELN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax - familial v1.8 | COL5A1 |
Louise Daugherty gene: COL5A1 was added gene: COL5A1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: COL5A1 was set to |
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| Pneumothorax - familial v1.8 | COL3A1 |
Louise Daugherty Source NHS GMS was added to COL3A1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Pneumothorax - familial v1.8 | CHST14 |
Louise Daugherty gene: CHST14 was added gene: CHST14 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: CHST14 was set to |
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| Pneumothorax - familial v1.8 | BTNL2 |
Louise Daugherty gene: BTNL2 was added gene: BTNL2 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: BTNL2 was set to |
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| Pneumothorax - familial v1.8 | ADAMTS2 |
Louise Daugherty gene: ADAMTS2 was added gene: ADAMTS2 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: ADAMTS2 was set to |
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