PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence)
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.1 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 40028680; 30992063
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MONDO:0011706
Review for gene: ATP13A2 was set to GREEN
Added comment: PMID 40028680 reports four individuals from two unrelated families with biallelic loss‑of‑function ATP13A2 variants (p.Arg487* homozygous; compound heterozygous p.Arg819* and p.Leu823Pro) presenting with an ALS‑like motor neuron disease characterised by progressive weakness, tongue fasciculations, spasticity, cognitive decline and juvenile‑onset parkinsonism. PMID 30992063 adds two unrelated families, one harbouring a homozygous nonsense p.Glu613Ter variant that segregates with disease and is absent from population databases, with functional zebrafish knock‑down and rescue confirming loss‑of‑function; the second family carries a homozygous missense p.Ile411Met variant present in gnomAD, which does not meet the qualifying variant criteria. Across the combined evidence, three independent families with qualifying biallelic loss‑of‑function variants fulfil the ≥3‑family threshold for Criterion A. The autosomal recessive inheritance and the recognisable ALS‑like phenotype are clinically actionable, supporting inclusion of ATP13A2 on the Motor Neurone Disease panel.
Sources: Literature
Early-onset Parkinson disease v3.20 DDC Bryony Thompson Publications for gene: DDC were set to PMID: 33983693
Early-onset Parkinson disease v3.19 DDC Bryony Thompson Classified gene: DDC as Green List (high evidence)
Early-onset Parkinson disease v3.19 DDC Bryony Thompson Gene: ddc has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.18 DDC Bryony Thompson reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928758, 36054588, 35829818, 35593933, 30260058; Phenotypes: aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Marked gene: TARDBP as ready
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Classified gene: TARDBP as Green List (high evidence)
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.17 TARDBP Bryony Thompson gene: TARDBP was added
gene: TARDBP was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TARDBP were set to 36247987
Phenotypes for gene: TARDBP were set to frontotemporal dementia with motor neuron disease MONDO:0017161
Review for gene: TARDBP was set to GREEN
Added comment: TARDBP variants are linked to adult‑onset Parkinson disease and related atypical parkinsonian syndromes, supporting its inclusion on the Early‑onset Parkinson disease panel which focuses on abnormal extrapyramidal motor function.
Parkinson disease (PD), adult onset (47‑67 years): Four families (four patients) with heterozygous missense TARDBP variants (p.G294A, p.G295S, p.S393L, p.N267S) were reported; variants are rare (gnomAD ≤8.2e‑5) and show patient‑cell functional deficits.
Corticobasal syndrome (CBS) with parkinsonism, adult onset: One family (one patient) harbouring heterozygous p.N267S was described; functional deficits observed in patient cells.
Progressive supranuclear palsy (PSP) with parkinsonism, adult onset: One family (one patient) with the same p.N267S variant was reported; functional assays are similar to CBS. The same evidence pattern applies as for CBS.
Sources: Literature
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Marked gene: SLC16A2 as ready
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Classified gene: SLC16A2 as Green List (high evidence)
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.15 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to 41144879; 40088079
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MONDO:0010354
Review for gene: SLC16A2 was set to GREEN
Added comment: PMID 40088079 reports 11 male patients from 11 families with hemizygous SLC16A2 loss-of-function variants; five independent families carry qualifying frameshift or splice null alleles causing Allan‑Herndon‑Dudley syndrome with childhood parkinsonism (hypokinesia, rigidity, dystonia, autonomic dysfunction). CSF homovanillic acid is markedly reduced and six treated families improve with levodopa/carbidopa. PMID 41144879 describes ten additional male patients with genetically confirmed SLC16A2 deficiency and infantile parkinsonism but provides no variant details, preventing independent family counting. The childhood parkinsonism phenotype aligns with the Early‑onset Parkinson disease panel's focus on abnormal extrapyramidal motor function.
Sources: Literature
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Marked gene: MICU1 as ready
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence).
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Publications for gene: MICU1 were set to 24336167; 29721912; 32395406
Dystonia and Chorea v1.2 Bryony Thompson Copied gene MICU1 from panel Mendeliome
Dystonia and Chorea v1.2 MICU1 Bryony Thompson gene: MICU1 was added
gene: MICU1 was added to Dystonia and Chorea. Sources: Expert Review Green,Victorian Clinical Genetics Services
founder tags were added to gene: MICU1.
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 24336167; 29721912; 32395406
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, MIM# 615673
Incidentalome v1.3 Bryony Thompson Copied gene LRP10 from panel Early-onset Parkinson disease
Incidentalome v1.3 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Early-onset Dementia v2.1 Bryony Thompson Copied gene LRP10 from panel Early-onset Parkinson disease
Early-onset Dementia v2.1 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Early-onset Dementia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Marked gene: LRP10 as ready
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Classified gene: LRP10 as Green List (high evidence)
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.13 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Review for gene: LRP10 was set to GREEN
Added comment: PMID 29887161 reports 12 families (30 patients) with Parkinson disease, Parkinson disease dementia and dementia with Lewy bodies with supporting segregation and variant‑specific functional loss‑of‑function. Also, some unaffected variant carriers. PMID 32613234 describes an additional independent family with a frameshift variant. Combined, 13 independent families meet the qualifying‑variant gate, supporting an autosomal‑dominant Parkinson disease spectrum that is directly relevant to the Early‑onset Parkinson disease panel (abnormal extrapyramidal motor function).
Sources: Literature
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Marked gene: H6PD as ready
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson changed review comment from: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association.
Sources: Literature; to: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Also homozygous and possible compound heterozygous variants were found in controls from the UK Biobank. Further studies required to establish the gene-disease association.
Sources: Literature
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Classified gene: H6PD as Amber List (moderate evidence)
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.11 H6PD Bryony Thompson gene: H6PD was added
gene: H6PD was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: H6PD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: H6PD were set to 40959972
Phenotypes for gene: H6PD were set to Parkinson disease MONDO:0005180
Review for gene: H6PD was set to AMBER
Added comment: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association.
Sources: Literature
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Marked gene: GNAO1 as ready
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Classified gene: GNAO1 as Green List (high evidence)
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.9 GNAO1 Bryony Thompson gene: GNAO1 was added
gene: GNAO1 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAO1 were set to 38358016; 35722775
Phenotypes for gene: GNAO1 were set to movement disorder, MONDO:0005395
Review for gene: GNAO1 was set to GREEN
Added comment: PMID 35722775 reports 24 individuals from 20 families carrying heterozygous GNAO1 variants, of whom seven families (seven individuals) present with adolescent‑ or adult‑onset parkinsonism with dystonia. PMID 38358016 reports a single child (onset ~9 years) with early‑onset parkinsonism caused by a de novo missense variant. Combined, eight families (eight individuals) with GNAO1‑related parkinsonism (movement disorder) have been described, all monoallelic loss‑of‑function alleles, fitting the Early‑onset Parkinson disease panel’s focus on abnormal extrapyramidal motor function.
Sources: Literature
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Marked gene: FIG4 as ready
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.7 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 41177402; 40884084; 40118803; 40062820; 37950760; 37868919
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease type 4J, MONDO:0012640
Review for gene: FIG4 was set to GREEN
Added comment: PMID 37868919 reports 1 family with biallelic loss‑of‑function FIG4 variants presenting with early‑onset Parkinsonism and Charcot‑Marie‑Tooth features; PMID 40062820 reports 1 family with biallelic loss‑of‑function FIG4 variants and a progressive supranuclear palsy‑like syndrome; PMID 37950760 reports 2 families with CMT4J and Parkinsonism; PMID 41177402 reports 2 families with CMT4J and early‑onset Parkinsonism, bringing the total to 6 families.
Sources: Literature
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Marked gene: EPG5 as ready
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Classified gene: EPG5 as Green List (high evidence)
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.5 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 41159719; 41053928; 40192014
Phenotypes for gene: EPG5 were set to neurodevelopmental disorder with parkinsonism or other movement abnormalities MONDO:0980990
Review for gene: EPG5 was set to GREEN
Added comment: PMID 40192014, PMID 41053928 and PMID 41159719 report >15 families with biallelic EPG5 variants presenting with early‑onset Parkinson disease (onset ≤50 years), often accompanied by dystonia and cognitive decline. The variants are loss‑of‑function (nonsense, frameshift, splice) or hypomorphic missense; patient‑derived cell assays and animal models demonstrate impaired autophagy and loss of substantia nigra dopaminergic neurons.
Sources: Literature
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Marked gene: COQ2 as ready
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Classified gene: COQ2 as Amber List (moderate evidence)
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.3 COQ2 Bryony Thompson gene: COQ2 was added
gene: COQ2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 39152783; 30242188; 25672683; 23758206
Phenotypes for gene: COQ2 were set to multiple system atrophy, MONDO:0007803
Review for gene: COQ2 was set to AMBER
Added comment: COQ2 encodes a key enzyme in coenzyme Q10 biosynthesis and is implicated in multiple system atrophy (MSA).
Multiple system atrophy, autosomal recessive – early‑onset Parkinsonism, cerebellar ataxia and autonomic dysfunction. Five independent families (6 reported patients) carry biallelic COQ2 variants (nonsense and missense) reported in PMID 30242188, 23758206, 25672683; iPSC‑derived neuronal rescue and yeast complementation support pathogenicity. But only 2 families were without a common missense V393A, which is present at a frequency of 2% in the East Asian population.
Multiple system atrophy, autosomal dominant – Parkinsonian type, early‑onset. Five affected individuals from a single pedigree harbour a heterozygous p.Ala301Thr missense variant (PMID 39152783); segregation across three generations is demonstrated, but no functional validation is available.
Multiple system atrophy risk allele – heterozygous COQ2 missense variants (including V393A) identified in a case‑control cohort of 758 patients (PMID 25672683). The high carrier frequency (3.3 % in controls) and lack of segregation indicate a susceptibility rather than a Mendelian disease.
Sources: Literature
Dystonia and Chorea v1.1 COA7 Bryony Thompson changed review comment from: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset parkinsonism. Across four families (three independent observations) the gene–disease association meets Criterion A, as well as Criteria D and E, supporting inclusion of COA7 on the Early‑onset Parkinson disease panel.
Sources: Literature; to: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and Parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset Parkinsonism and dystonia.
Sources: Literature
Dystonia and Chorea v1.1 Bryony Thompson Copied gene COA7 from panel Early-onset Parkinson disease
Dystonia and Chorea v1.1 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Dystonia and Chorea. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 37750949; 37264311
Phenotypes for gene: COA7 were set to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770
Early-onset Parkinson disease v3.2 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Early-onset Parkinson disease v3.2 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.1 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 37750949; 37264311
Phenotypes for gene: COA7 were set to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770
Review for gene: COA7 was set to GREEN
Added comment: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset parkinsonism. Across four families (three independent observations) the gene–disease association meets Criterion A, as well as Criteria D and E, supporting inclusion of COA7 on the Early‑onset Parkinson disease panel.
Sources: Literature
Bone Marrow Failure v2.7 Bryony Thompson Copied gene NFE2 from panel Bleeding and Platelet Disorders
Bone Marrow Failure v2.7 NFE2 Bryony Thompson gene: NFE2 was added
gene: NFE2 was added to Bone Marrow Failure. Sources: Expert Review Amber,ClinGen
Mode of inheritance for gene: NFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFE2 were set to 31951293
Phenotypes for gene: NFE2 were set to thrombocytopenia MONDO:0002049, NFE2-related
Bleeding and Platelet Disorders v2.1 NFE2 Bryony Thompson Classified gene: NFE2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v2.1 NFE2 Bryony Thompson Gene: nfe2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v2.0 NFE2 Bryony Thompson reviewed gene: NFE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 42152485, 31951293; Phenotypes: thrombocytopenia MONDO:0002049, NFE2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.76 NFE2 Bryony Thompson Classified gene: NFE2 as Amber List (moderate evidence)
Mendeliome v2.76 NFE2 Bryony Thompson Gene: nfe2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.75 NFE2 Bryony Thompson reviewed gene: NFE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 42152485, 33283958, 32554556, 31951293; Phenotypes: familial thrombocytosis MONDO:0019111, thrombocytopenia, MONDO:0002049; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v2.1 Bryony Thompson Copied gene NIBAN3 from panel Mendeliome
Gastrointestinal neuromuscular disease v2.1 NIBAN3 Bryony Thompson gene: NIBAN3 was added
gene: NIBAN3 was added to Gastrointestinal neuromuscular disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NIBAN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIBAN3 were set to 42185265
Phenotypes for gene: NIBAN3 were set to achalasia MONDO:0008698
Mendeliome v2.75 NIBAN3 Bryony Thompson Marked gene: NIBAN3 as ready
Mendeliome v2.75 NIBAN3 Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.75 NIBAN3 Bryony Thompson Classified gene: NIBAN3 as Amber List (moderate evidence)
Mendeliome v2.75 NIBAN3 Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.74 NIBAN3 Bryony Thompson gene: NIBAN3 was added
gene: NIBAN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NIBAN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIBAN3 were set to 42185265
Phenotypes for gene: NIBAN3 were set to achalasia MONDO:0008698
Review for gene: NIBAN3 was set to AMBER
Added comment: PMID 42185265 reports 2 apparently unrelated individuals (1 identified through trio analysis and 1 from a sporadic cohort) with a homozygous loss-of-function frameshift variant p.Ala454fs in NIBAN3 presenting with achalasia (elevated lower‑esophageal sphincter pressure, impaired esophageal emptying). A CRISPR/Cas9‑engineered Fam129c mouse model recapitulates key achalasia features, and B‑cell depletion or IVIG partially rescues the phenotype, supporting a neuro‑immune mechanism.
Sources: Literature
Mendeliome v2.73 BEND2 Bryony Thompson Marked gene: BEND2 as ready
Mendeliome v2.73 BEND2 Bryony Thompson Gene: bend2 has been classified as Red List (Low Evidence).
Mendeliome v2.73 BEND2 Bryony Thompson gene: BEND2 was added
gene: BEND2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BEND2 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: BEND2 were set to 42116563
Phenotypes for gene: BEND2 were set to Infertility disorder, MONDO:0005047
Review for gene: BEND2 was set to RED
Added comment: PMID 42116563 reports one adult male from one family with a hemizygous missense BEND2 variant (c.G1069A; p.V357I) presenting with adult‑onset nonobstructive azoospermia and spermatocyte maturation arrest. The variant is absent in fertile controls, and mouse Bend2 knockout males show a similar meiotic arrest, suggesting a loss‑of‑function mechanism, although no variant‑specific functional rescue was performed.
Sources: Literature
Ichthyosis and Porokeratosis v2.2 Bryony Thompson Copied gene NKPD1 from panel Mendeliome
Ichthyosis and Porokeratosis v2.2 NKPD1 Bryony Thompson gene: NKPD1 was added
gene: NKPD1 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NKPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKPD1 were set to 38642798
Phenotypes for gene: NKPD1 were set to lamellar ichthyosis MONDO:0017778
Mendeliome v2.72 NKPD1 Bryony Thompson Marked gene: NKPD1 as ready
Mendeliome v2.72 NKPD1 Bryony Thompson Gene: nkpd1 has been classified as Red List (Low Evidence).
Mendeliome v2.72 NKPD1 Bryony Thompson gene: NKPD1 was added
gene: NKPD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKPD1 were set to 38642798
Phenotypes for gene: NKPD1 were set to lamellar ichthyosis MONDO:0017778
Review for gene: NKPD1 was set to RED
Added comment: A single German family segregating a missense (c.1372G>T, p.[Val458Phe]) variant.
Sources: Literature
Ichthyosis and Porokeratosis v2.1 Bryony Thompson Copied gene EPHX3 from panel Mendeliome
Ichthyosis and Porokeratosis v2.1 EPHX3 Bryony Thompson gene: EPHX3 was added
gene: EPHX3 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EPHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX3 were set to 42178907
Phenotypes for gene: EPHX3 were set to Ichthyosis MONDO:0019269
Mendeliome v2.71 EPHX3 Bryony Thompson Marked gene: EPHX3 as ready
Mendeliome v2.71 EPHX3 Bryony Thompson Gene: ephx3 has been classified as Green List (High Evidence).
Mendeliome v2.71 EPHX3 Bryony Thompson Classified gene: EPHX3 as Green List (high evidence)
Mendeliome v2.71 EPHX3 Bryony Thompson Gene: ephx3 has been classified as Green List (High Evidence).
Mendeliome v2.70 EPHX3 Bryony Thompson gene: EPHX3 was added
gene: EPHX3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EPHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX3 were set to 42178907
Phenotypes for gene: EPHX3 were set to Ichthyosis MONDO:0019269
Review for gene: EPHX3 was set to GREEN
Added comment: PMID 42178907 reports 5 individuals from 3 families with autosomal recessive loss‑of‑function variants presenting with nonsyndromic epidermal differentiation disorder (nEDD), infant‑onset generalised xerosis, erythematous scaling plaques and skin peeling. Functional assays in patient keratinocytes and HEK293T cells demonstrate markedly reduced EH3 enzymatic activity and disrupted skin‑barrier lipid composition.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Autism v1.2 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Autism v1.2 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.11 Zornitza Stark Copied gene NLGN2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Autism v1.2 Zornitza Stark Copied gene NLGN2 from panel Mendeliome
Autism v1.2 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Autism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Mendeliome v2.69 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Mendeliome v2.69 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.69 NLGN2 Zornitza Stark Classified gene: NLGN2 as Amber List (moderate evidence)
Mendeliome v2.69 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.68 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Review for gene: NLGN2 was set to AMBER
Added comment: PMID 27865048, PMID 32405903 and PMID 37506563 report three individuals from three unrelated families with de novo heterozygous variants in NLGN2 (two missense, one LoF) presenting with a neurodevelopmental disorder characterised by autism spectrum disorder, intellectual disability, anxiety, hyperphagia, obesity, catatonia and epilepsy (febrile and atypical absence seizures).

Supportive animal model in PMID 22820233: Nlgn2(-/-) mice displayed normal social behaviors, concomitant with reduced exploratory activity, impaired rotarod performance, and delays on several developmental milestones. No spontaneous stereotypies or repetitive behaviors were detected. Acoustic, tactile, and olfactory sensory information processing as well as sensorimotor gating were not affected. Overall, mild impairments.
Sources: Literature
Heterotaxy v2.1 FGFR4 Zornitza Stark Marked gene: FGFR4 as ready
Heterotaxy v2.1 FGFR4 Zornitza Stark Gene: fgfr4 has been classified as Red List (Low Evidence).
Heterotaxy v2.1 Zornitza Stark Copied gene FGFR4 from panel Mendeliome
Heterotaxy v2.1 FGFR4 Zornitza Stark gene: FGFR4 was added
gene: FGFR4 was added to Heterotaxy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FGFR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR4 were set to 30564136
Phenotypes for gene: FGFR4 were set to Visceral heterotaxy, MONDO:0018677, FGFR4-related
Mendeliome v2.67 FGFR4 Zornitza Stark Marked gene: FGFR4 as ready
Mendeliome v2.67 FGFR4 Zornitza Stark Gene: fgfr4 has been classified as Red List (Low Evidence).
Mendeliome v2.67 FGFR4 Zornitza Stark gene: FGFR4 was added
gene: FGFR4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGFR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR4 were set to 30564136
Phenotypes for gene: FGFR4 were set to Visceral heterotaxy, MONDO:0018677, FGFR4-related
Review for gene: FGFR4 was set to RED
Added comment: PMID 30564136 reports three individuals from three families with heterozygous FGFR4 variants (de novo missense p.Asp297Asn, inherited stopgain p.Gly705*, and an inherited splice variant) presenting with heterotaxy and congenital heart disease (including hypoplastic left heart syndrome, L‑transposition of the great arteries, tricuspid atresia, hypoplastic pulmonary artery, left superior vena cava). Xenopus fgfr4 knockdown recapitulates heterotaxy‑like phenotypes, supporting a loss‑of‑function mechanism. However, two of the variants are inherited, hence Red rating.
Sources: Literature
Mitochondrial disease v2.1 Lucy Spencer Copied gene SLC16A13 from panel Mendeliome
Mitochondrial disease v2.1 SLC16A13 Lucy Spencer gene: SLC16A13 was added
gene: SLC16A13 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLC16A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC16A13 were set to 42173862
Phenotypes for gene: SLC16A13 were set to Lactic acidosis MONDO:0006040, SLC16A13-related
Mendeliome v2.66 SLC16A13 Lucy Spencer gene: SLC16A13 was added
gene: SLC16A13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC16A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC16A13 were set to 42173862
Phenotypes for gene: SLC16A13 were set to Lactic acidosis MONDO:0006040, SLC16A13-related
Review for gene: SLC16A13 was set to RED
Added comment: PMID: 42173862 reports a 10yo with a homozygous frameshift variant in SLC16A13 who had growth delay, partial growth hormone deficiency and profound exercise induced lactic acidemia. Other metabolic abnormalities were also detected post exercise. A knockout mouse model recapitulated the exercise induced lactic acidemia, however the mice had normal growth and development.
Sources: Literature
Congenital hypothyroidism v1.5 Lucy Spencer Copied gene CTBP2 from panel Mendeliome
Congenital hypothyroidism v1.5 CTBP2 Lucy Spencer gene: CTBP2 was added
gene: CTBP2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTBP2 were set to 42192612
Phenotypes for gene: CTBP2 were set to Congenital hypothyroidism MONDO:0018612, CTBP2-related
Mendeliome v2.65 CTBP2 Lucy Spencer gene: CTBP2 was added
gene: CTBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTBP2 were set to 42192612
Phenotypes for gene: CTBP2 were set to Congenital hypothyroidism MONDO:0018612, CTBP2-related
Review for gene: CTBP2 was set to RED
Added comment: PMID: 42192612 reports 1 individual biallelic CTBP2 missense variants (T417A and H380R) presenting with childhood onset congenital hypothyroidism. Knockdown of ctbp2 in Zebrafish showed thyroid hypoplasia.
Sources: Literature
Bone Marrow Failure v2.6 Lucy Spencer Copied gene BPNT1 from panel Mendeliome
Bone Marrow Failure v2.6 BPNT1 Lucy Spencer gene: BPNT1 was added
gene: BPNT1 was added to Bone Marrow Failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BPNT1 were set to 42166360
Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related
Mendeliome v2.64 BPNT1 Lucy Spencer Classified gene: BPNT1 as Green List (high evidence)
Mendeliome v2.64 BPNT1 Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence).
Mendeliome v2.63 BPNT1 Lucy Spencer Classified gene: BPNT1 as Green List (high evidence)
Mendeliome v2.63 BPNT1 Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence).
Mendeliome v2.62 BPNT1 Lucy Spencer gene: BPNT1 was added
gene: BPNT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BPNT1 were set to 42166360
Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related
Review for gene: BPNT1 was set to GREEN
Added comment: PMID: 42166360 reports 3 unrelated individuals with severe recurrent megaloblastic anaemia, hyperhomocysteinemia and low B12. One of the patients also had sensory ataxia, demyelination and methylmalonic acidemia. All had homozygous or compound heterozygous nonsense, frameshift or missense variants, the missense variant was shown to affect splicing.

BPNT1 null mice had low plasma B12, elevated homocysteine, and ribosome biogenesis defects.
Sources: Literature
Genetic Epilepsy v2.9 SOX10 Lucy Spencer Classified gene: SOX10 as Green List (high evidence)
Genetic Epilepsy v2.9 SOX10 Lucy Spencer Gene: sox10 has been classified as Green List (High Evidence).
Genetic Epilepsy v2.8 SOX10 Lucy Spencer gene: SOX10 was added
gene: SOX10 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to 29792164; 35725288
Phenotypes for gene: SOX10 were set to PCWH syndrome MIM#609136
Review for gene: SOX10 was set to GREEN
Added comment: Seizures are a rare feature of this disorder and may be caused by the delayed myelination/demyelination associated with this gene. There are several reports in the literature of individuals with seizures as part of PCWH syndrome (PMIDs: 29792164, 35725288).
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.10 Lucy Spencer Copied gene HDAC2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.10 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Infertility and Recurrent Pregnancy Loss v2.6 Lucy Spencer Copied gene ACTRT1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.6 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Autoinflammatory Disorders v3.3 FGR Peter McNaughton gene: FGR was added
gene: FGR was added to Autoinflammatory Disorders. Sources: Literature
Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGR were set to PMID: 31138708; PMID: 41920357
Phenotypes for gene: FGR were set to autoinflammatory bone disease; infantile vasculitis
Mode of pathogenicity for gene: FGR was set to Other
Review for gene: FGR was set to GREEN
Added comment: FGR variants reported in patients with CRMO and mouse model demonstrating inflammasome activation.
13 family members across 3 generations with vasculitis, pulmonary haemorrhage, CRMO
Sources: Literature
Autoinflammatory Disorders v3.3 HCK Peter McNaughton edited their review of gene: HCK: Added comment: 3x additional patients from 2x kindreds with neonatal onset vasculitis.; Changed rating: GREEN; Changed publications: PMID: 41920357; Changed phenotypes: Autoinflammation, mongenic vasculitis
Chromosome Breakage Disorders v2.2 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Chromosome Breakage Disorders v2.1 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Chromosome Breakage Disorders v2.1 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v2.0 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Changed rating: GREEN
Chromosome Breakage Disorders v2.0 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.; Changed publications: 27208205, 22232082, 11118202, 42071175, 30237576, 27208205
Bone Marrow Failure v2.5 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from Fanconi anemia, complementation group U, MIM# 617247 to Fanconi anaemia, complementation group U, MIM# 617247
Bone Marrow Failure v2.4 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Bone Marrow Failure v2.3 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Bone Marrow Failure v2.3 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Bone Marrow Failure v2.2 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.; Changed rating: GREEN; Changed publications: 27208205, 22232082, 11118202, 42071175, 30237576, 27208205; Changed phenotypes: Fanconi anaemia, complementation group U, MIM# 617247
Mendeliome v2.61 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Mendeliome v2.61 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Mendeliome v2.60 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.

Premature ovarian insufficiency (biallelic LoF): PMID 30489636 reports a Chinese consanguineous family with a homozygous p.Leu14Pro missense variant causing POI; functional splicing assays demonstrate loss‑of‑function. Male infertility – non‑obstructive azoospermia (biallelic LoF): PMID 30489636 and PMID 30042186 describe the same p.Leu14Pro variant in two Chinese families, with histological meiotic arrest and a mouse knock‑in model recapitulating the phenotype. RED for this association.; Changed rating: GREEN; Changed publications: 42071175, 30489636, 30237576, 30042186, 27208205; Changed phenotypes: Fanconi anaemia complementation group U, MONDO:0014987, premature ovarian failure 17, MONDO:0030870, spermatogenic failure 50, MONDO:0030869
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark Marked gene: NEURL1 as ready
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark Gene: neurl1 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.4 Zornitza Stark Copied gene NEURL1 from panel Mendeliome
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark gene: NEURL1 was added
gene: NEURL1 was added to Congenital hypothyroidism. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NEURL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEURL1 were set to 42192612
Phenotypes for gene: NEURL1 were set to Congenital hypothyroidism, MONDO:0018612, NEURL1-related
Mendeliome v2.60 NEURL1 Zornitza Stark Marked gene: NEURL1 as ready
Mendeliome v2.60 NEURL1 Zornitza Stark Gene: neurl1 has been classified as Red List (Low Evidence).
Mendeliome v2.60 NEURL1 Zornitza Stark gene: NEURL1 was added
gene: NEURL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEURL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEURL1 were set to 42192612
Phenotypes for gene: NEURL1 were set to Congenital hypothyroidism, MONDO:0018612, NEURL1-related
Review for gene: NEURL1 was set to RED
Added comment: PMID 42192612 reports one individual with biallelic missense NEURL1 variants (p.H68Y) causing isolated congenital hypothyroidism (childhood‑onset). Segregation analysis shows biparental inheritance. Zebrafish neurl1aa morpholino knockdown recapitulates thyroid defects.
Sources: Literature
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v2.1 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.59 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.58 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v2.1 Zornitza Stark Copied gene SEPTIN6 from panel Mendeliome
Phagocyte Defects v2.1 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Phagocyte Defects. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Bone Marrow Failure v2.1 Zornitza Stark Copied gene SEPTIN6 from panel Mendeliome
Bone Marrow Failure v2.1 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Bone Marrow Failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Mendeliome v2.58 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Mendeliome v2.58 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.58 SEPTIN6 Zornitza Stark Classified gene: SEPTIN6 as Amber List (moderate evidence)
Mendeliome v2.58 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.57 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Review for gene: SEPTIN6 was set to AMBER
Added comment: PMID 34677878 and PMID 42088107 report three patients from two independent families with X‑linked severe congenital neutropenia, B‑cell aplasia and variable T‑cell lymphopenia caused by stop‑loss variants in SEPTIN6; one is inherited from unaffected mother (two affected sibs) and the other is de novo.

Functional studies in PMID 34677878: patient skin fibroblast-derived induced pluripotent stem cells (iPSCs) produced reduced myeloid colonies, particularly of the granulocyte lineage. CRISPR/Cas9 knock-in of the patient's mutation or complete knock-out of SEPT6 was not tolerated in non-patient-derived iPSCs or human myeloid cell lines, but SEPT6 knock-out was successful in an erythroid cell line and resulting clones revealed a propensity to multinucleation. In silico analysis predicted that the mutated protein hinders the dimerization of SEPT6 coiled-coils in both parallel and antiparallel arrangements, which could in turn impair filament formation.
Sources: Literature
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.1 Zornitza Stark Copied gene FBN1 from panel Dilated Cardiomyopathy
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Phenotypes for gene: FBN1 were set to MONDO:0007947 Marfan Syndrome
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection to MONDO:0007947 Marfan Syndrome
Dilated Cardiomyopathy v2.6 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Dilated Cardiomyopathy v2.6 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Brugada syndrome v1.3 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to} to SCN5A-related cardiac rhythm disorder MONDO:1010181; Brugada syndrome; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Brugada syndrome v1.2 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29806494; 18929244
Dilated Cardiomyopathy v2.5 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Cardiomyopathy, dilated, 1E, MIM# 601154 to Cardiomyopathy, dilated, 1E, MIM# 601154; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome; SCN5A-related cardiac rhythm disorder MONDO:1010181
Dilated Cardiomyopathy v2.4 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 15671429; 15671429; 19808398; 21596231; 20458009; 22675453; 22766342; 22999724; 29871609; 29506689; 31514951; 31930659; 31520233; 17512504; 21824921; 30218094
Long QT Syndrome v1.3 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29798782
Long QT Syndrome v1.2 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Long QT syndrome 3 (MIM#603830) to Long QT syndrome 3 (MIM#603830); Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome; SCN5A-related cardiac rhythm disorder MONDO:1010181
Long QT Syndrome v1.1 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Dilated Cardiomyopathy v2.3 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Brugada syndrome v1.1 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181 to progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Cardiac conduction disease v2.1 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 39134129; 11804990; 16643399; 15466643
Dilated Cardiomyopathy v2.2 FBN1 Natasha Henden gene: FBN1 was added
gene: FBN1 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Phenotypes for gene: FBN1 were set to MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection
Review for gene: FBN1 was set to AMBER
Added comment: Dilated cardiomyopathy (DCM) is increasingly recognised as a primary manifestation of Marfan Syndrome (MFS) and/or FBN1 haploinsufficiency. Intrinsic cardiomyopathy characterised by left ventricular dilation and dysfunction has been observed in 13-21.7% and 16-39.8% of paediatric and adult MFS patients, respectively; with approximately 23% of these patients presenting without concomitant valvular disease, and at least 3% of adult patients (n=3 of 97 adult MFS patients from the GenTAC registry) presenting with ventricular only and not aortic dilation (PMID: 39900832, PMID: 24531548).

Additionally, fibrillin-1 haploinsufficiency murine models manifest primary DCM due to abnormal mechano-signalling in cardiomyocytes. Observation of increased angiotensin II receptor signalling and reduced focal adhesion kinase activity indicates chronic mechanical stress in cardiomyocytes drives DCM presentation and progression, in otherwise phenotypically normal fibrillin-1-deficient mice (PMID: 24531548).
Sources: Literature
Cardiac conduction disease v2.0 SCN5A Natasha Henden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22766342, 41159261; Phenotypes: Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome, SCN5A-related cardiac rhythm disorder MONDO:1010181; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.56 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Inborn error of immunity, MONDO:0003778, TLR1-related to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; IInflammatory bowel disease 32, MIM# 621601
Mendeliome v2.55 TLR1 Zornitza Stark edited their review of gene: TLR1: Changed phenotypes: Inflammatory bowel disease 32, MIM# 621601
Disorders of immune dysregulation v2.1 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from Inborn error of immunity, MONDO:0003778, TLR1-related to Inflammatory bowel disease 32, MIM# 621601
Disorders of immune dysregulation v2.0 TLR1 Zornitza Stark edited their review of gene: TLR1: Changed phenotypes: Inflammatory bowel disease 32, MIM# 621601
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Genetic Epilepsy v2.7 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Genetic Epilepsy v2.7 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.9 Zornitza Stark Copied gene DOP1A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Genetic Epilepsy v2.7 Zornitza Stark Copied gene DOP1A from panel Mendeliome
Genetic Epilepsy v2.7 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Aortopathy_Connective Tissue Disorders v2.0 GORAB Deepak Subramanian changed review comment from: Classified in 2025 as Definitive gene-disease validity in ClinGen (https://search.clinicalgenome.org/CCID:008904), based on genetic and experimental evidence from papers cited below.; to: Classified in 2025 as Definitive gene-disease validity in ClinGen (https://search.clinicalgenome.org/CCID:008904), based on genetic and experimental evidence from papers cited below.
Aortopathy_Connective Tissue Disorders v2.0 GORAB Deepak Subramanian reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18997784, 19681135, 28807865, 39619733, 18997784, 29108851, 29561836, 39234801; Phenotypes: Geroderma osteodysplasticum, MIM #231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.55 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619 to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619; Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Mendeliome v2.54 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Recurrent hydatidiform mole 3, MIM# 618431, Spermatogenic failure 103, MIM# 621619, Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Infertility and Recurrent Pregnancy Loss v2.5 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619 to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619; Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Infertility and Recurrent Pregnancy Loss v2.4 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Spermatogenic failure 103, MIM# 621619, Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Mendeliome v2.54 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Non-obstructive azoospermia to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619
Mendeliome v2.53 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Recurrent hydatidiform mole 3, MIM# 618431, Spermatogenic failure 103, MIM# 621619
Infertility and Recurrent Pregnancy Loss v2.4 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Non-obstructive azoospermia to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619
Infertility and Recurrent Pregnancy Loss v2.3 MEI1 Zornitza Stark reviewed gene: MEI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 103, MIM# 621619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v2.3 CCDC174 Sarah Milton Classified gene: CCDC174 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v2.3 CCDC174 Sarah Milton Gene: ccdc174 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.2 CCDC174 Sarah Milton gene: CCDC174 was added
gene: CCDC174 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC174 were set to 42120494
Phenotypes for gene: CCDC174 were set to Infertility disorder, MONDO:0005047, CCDC174-related
Review for gene: CCDC174 was set to GREEN
Added comment: CCDC174 encodes a protein thought to be involved in regulation of alternative splicing and of mRNAs by interacting with the PRP19/CDC5L complex. It is highly expressed in oocytes.

PMID 42120494 reports five females with biallelic variants (missense or frameshift) in CCDC174 presenting with primary infertility due to oocyte maturation arrest, fertilisation failure or early embryonic arrest.
Variants were at appropriate frequencies in gnomAD v4 for a rare recessive disorder.

Supportive mouse studies with oocyte specific knockout of CCDC174 recapitulating the infertility phenotype. Homozygous germline wide knockout mice were neonatal lethal.
Sources: Literature
Mendeliome v2.53 CCDC174 Sarah Milton Classified gene: CCDC174 as Green List (high evidence)
Mendeliome v2.53 CCDC174 Sarah Milton Gene: ccdc174 has been classified as Green List (High Evidence).
Mendeliome v2.52 CCDC174 Sarah Milton reviewed gene: CCDC174: Rating: GREEN; Mode of pathogenicity: None; Publications: 42120494, 26358778; Phenotypes: Infertility disorder, MONDO:0005047, CCDC174-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.2 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Fetal anomalies v2.2 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Fetal anomalies v2.1 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Fetal anomalies. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Skeletal dysplasia v1.2 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Skeletal dysplasia v1.2 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Skeletal dysplasia v1.1 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Skeletal dysplasia. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Congenital hypothyroidism v1.3 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.52 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612, 30826922; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.52 CNTN6 Sarah Milton Deleted their review
Mendeliome v2.52 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.455 Sarah Milton Copied Region ID4 downstream regulatory region from panel Mendeliome
Skeletal dysplasia v0.455 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Fetal anomalies v1.589 Sarah Milton Copied Region ID4 downstream regulatory region from panel Mendeliome
Fetal anomalies v1.589 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Fetal anomalies. Sources: Expert Review Green,Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Mendeliome v2.52 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Mendeliome v2.52 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton changed review comment from: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature; to: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton changed review comment from: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions and one inversion) affecting the region downstream of ID4. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature; to: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Mendeliome. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions and one inversion) affecting the region downstream of ID4. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.2 MEIOSIN Sangavi Sivagnanasundram gene: MEIOSIN was added
gene: MEIOSIN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MEIOSIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOSIN were set to 42177587; 37982418
Phenotypes for gene: MEIOSIN were set to MEIOSIN-related premature ovarian insufficiency (POI) MONDO:0005047
Review for gene: MEIOSIN was set to AMBER
Added comment: PMID: 379882418 - A female proband from a consanguineous family with POI.
Homozygous missense variant - R579W (singleton - AF 0.0004%). Her sisters are heterozygous carriers for this variant and were clinically unaffected.

PMID: 42177587 - Two Chinese sisters from non-consanguineous parents presenting with POI.
Compound heterozygous variants identified in trans Leu327Pro; His356fs*14 - both variants absent from gnomAD v4.1.

Supportive functional assays (dual‑luciferase reporter) show reduced transcriptional activation of meiotic genes, and a knock‑in mouse model carrying the homozygous variant recapitulates infertility, supporting a loss‑of‑function mechanism however, further evidence is required to definitely support the mechanism of disease.

There is no Morbid OMIM entry for this gene disease association.
Only one variant in this gene has been reported in ClinVar (p.Ser462_Ser465dup, has been classified as likely Benign).
According to GTex, this gene is highly expressed in the testis but has low expression in the ovaries.
Remain as AMBER pending further evidence.
Sources: Literature
Mendeliome v2.50 MEIOSIN Sangavi Sivagnanasundram gene: MEIOSIN was added
gene: MEIOSIN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIOSIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOSIN were set to 42177587; 37982418
Phenotypes for gene: MEIOSIN were set to MEIOSIN-related premature ovarian insufficiency (POI) MONDO:0005047
Review for gene: MEIOSIN was set to AMBER
Added comment: PMID: 379882418 - A female proband from a consanguineous family with POI.
Homozygous missense variant - R579W (singleton - AF 0.0004%). Her sisters are heterozygous carriers for this variant and were clinically unaffected.

PMID: 42177587 - Two Chinese sisters from non-consanguineous parents presenting with POI.
Compound heterozygous variants identified in trans Leu327Pro; His356fs*14 - both variants absent from gnomAD v4.1.

Supportive functional assays (dual‑luciferase reporter) show reduced transcriptional activation of meiotic genes, and a knock‑in mouse model carrying the homozygous variant recapitulates infertility, supporting a loss‑of‑function mechanism however, further evidence is required to definitely support the mechanism of disease.

There is no Morbid OMIM entry for this gene disease association.
Only one variant in this gene has been reported in ClinVar (p.Ser462_Ser465dup, has been classified as likely Benign).
According to GTex, this gene is highly expressed in the testis but has low expression in the ovaries.
Remain as AMBER pending further evidence.
Sources: Literature
Dilated Cardiomyopathy v2.2 FBXO32 chirag patel Classified gene: FBXO32 as Amber List (moderate evidence)
Dilated Cardiomyopathy v2.2 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel Marked gene: FBXO32 as ready
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel Gene: fbxo32 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel gene: FBXO32 was added
gene: FBXO32 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FBXO32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO32 were set to 36344977; 34272480; 26768247; 26753747
Phenotypes for gene: FBXO32 were set to Dilated cardiomyopathy, MONDO:0005021, FBXO32-related
Review for gene: FBXO32 was set to AMBER
Added comment: PMID 26768247, PMID 36344977 and PMID 26753747 report 10 individuals from 3 unrelated consanguineous families with homozygous variants in FBXO32 (but 2 families are from Saudi Arabia and have the same variant). Individuals had dilated cardiomyopathy with diagnosis in late childhood to early adulthood. The 2 homozygous variants were rare and shown to segregate in the family with unaffected heterozygous parents and siblings.

The Saudi Arabian variant (p.Gly243Arg) was shown to severely impair binding to SCF proteins using co-immunoprecipitation experiments from cells expressing the mutant protein and from human heart tissue from 2 of the affected patients. Immunohistochemical analysis of the FBXO32 protein showed cytoplasmic staining with reduced expression in the left ventricle of the index case. The Iranian variant (p.Lys295del) was modelled in silico to show loss of nuclear localisation.
Sources: Literature
Mendeliome v2.49 FBXO32 chirag patel Marked gene: FBXO32 as ready
Mendeliome v2.49 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.49 FBXO32 chirag patel Classified gene: FBXO32 as Amber List (moderate evidence)
Mendeliome v2.49 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.48 FBXO32 chirag patel gene: FBXO32 was added
gene: FBXO32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXO32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO32 were set to 36344977; 34272480; 26768247; 26753747
Phenotypes for gene: FBXO32 were set to Dilated cardiomyopathy, MONDO:0005021, FBXO32-related
Review for gene: FBXO32 was set to AMBER
Added comment: PMID 26768247, PMID 36344977 and PMID 26753747 report 10 individuals from 3 unrelated consanguineous families with homozygous variants in FBXO32 (but 2 families are from Saudi Arabia and have the same variant). Individuals had dilated cardiomyopathy with diagnosis in late childhood to early adulthood. The 2 homozygous variants were rare and shown to segregate in the family with unaffected heterozygous parents and siblings.

The Saudi Arabian variant (p.Gly243Arg) was shown to severely impair binding to SCF proteins using co-immunoprecipitation experiments from cells expressing the mutant protein and from human heart tissue from 2 of the affected patients. Immunohistochemical analysis
of the FBXO32 protein showed cytoplasmic staining with reduced expression in the left ventricle of the index case. The Iranian variant (p.Lys295del) was modelled in silico to show loss of nuclear localisation.
Sources: Literature
Congenital hypothyroidism v1.3 DTX2 Rylee Peters Marked gene: DTX2 as ready
Congenital hypothyroidism v1.3 DTX2 Rylee Peters Gene: dtx2 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.3 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Review for gene: DTX2 was set to RED
Added comment: PMID: 42192612 reports 1 individual from 1 family with biallelic missense DTX2 variants (variants not phased/segregated) presenting with congenital hypothyroidism, isolated thyroid dysfunction, childhood‑onset. Zebrafish morpholino knockdown of dtx2 caused thyroid hypoplasia and reduced T4.
Sources: Literature
Mendeliome v2.47 PAM chirag patel Marked gene: PAM as ready
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.47 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.2 PAM chirag patel Marked gene: PAM as ready
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.2 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.46 PAM chirag patel gene: PAM was added
gene: PAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Pituitary Tumour v2.1 PAM chirag patel gene: PAM was added
gene: PAM was added to Pituitary Tumour. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Marked gene: SERPINA3 as ready
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Classified gene: SERPINA3 as Amber List (moderate evidence)
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.2 SERPINA3 chirag patel gene: SERPINA3 was added
gene: SERPINA3 was added to Autoinflammatory Disorders. Sources: Literature
Mode of inheritance for gene: SERPINA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SERPINA3 were set to 36828876; 33961311; 31945348
Phenotypes for gene: SERPINA3 were set to Pustular psoriasis, MONDO:0022205
Review for gene: SERPINA3 was set to AMBER
Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.
Sources: Literature
Mendeliome v2.45 SERPINA3 chirag patel Phenotypes for gene: SERPINA3 were changed from Pustular psoriasis, MONDO:0022205 to Pustular psoriasis, MONDO:0022205
Mendeliome v2.45 SERPINA3 chirag patel Phenotypes for gene: SERPINA3 were changed from Inborn error of immunity, MONDO:0003778 to Pustular psoriasis, MONDO:0022205
Mendeliome v2.44 SERPINA3 chirag patel Marked gene: SERPINA3 as ready
Mendeliome v2.44 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.44 SERPINA3 chirag patel Classified gene: SERPINA3 as Amber List (moderate evidence)
Mendeliome v2.44 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.43 SERPINA3 chirag patel Deleted their comment
Mendeliome v2.43 SERPINA3 chirag patel edited their review of gene: SERPINA3: Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.; Changed phenotypes: Pustular psoriasis, MONDO:0022205
Mendeliome v2.43 SERPINA3 chirag patel gene: SERPINA3 was added
gene: SERPINA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SERPINA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SERPINA3 were set to 36828876; 33961311; 31945348
Phenotypes for gene: SERPINA3 were set to Inborn error of immunity, MONDO:0003778
Review for gene: SERPINA3 was set to AMBER
Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.
Sources: Literature
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.5 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.8 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v2.8 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.7 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Genomic newborn screening: ICoNS v1.12 ACAT1 Lilian Rudd gene: ACAT1 was added
gene: ACAT1 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Added comment: Well established gene-disease association. DEFINITIVE by ClinGen.

Childhood onset, presents with metabolic acidosis.

Non-genetic confirmatory testing: urine organic acids, plasma acylcarnitine profile

Treatment: avoid fasting, carnitine, riboflavin, protein restricted diet
Sources: Expert List
Intellectual disability syndromic and non-syndromic v1.834 Sarah Milton Copied gene MAGED1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.834 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Genetic Epilepsy v1.437 Sarah Milton Copied gene MAGED1 from panel Mendeliome
Genetic Epilepsy v1.437 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Mendeliome v2.42 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Mendeliome v2.42 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.41 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Genomic newborn screening: ICoNS v1.11 SLC25A13 Lilian Rudd gene: SLC25A13 was added
gene: SLC25A13 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 18367750, 10369257, 19036621, 18392553, 21914561, 11343052, 11343053, 31607264
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM# 605814
Added comment: Definitive gene disease association by ClinGen
'Moderate' paediatric and adult actionability

Symptoms of Citrin deficiency (caused by a deficiency of a mitochondrial shuttle function), usually appear during adulthood and mainly affect the nervous system; some patients previously experienced neonatal intrahepatic cholestatic icterus (OMIM# 605814). Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia. Intellectual disability is one of the main sequelae.

High-protein/high-fat/low-carbohydrate diet, avoid fasting, avoid glucose iv, lactose restriction, medium -chain triglycerides ***Started as soon as diagnosis is made
improves behavioural/psychiatric disturbance(s); prevents acute metabolic decompensation; prevents, halts, or slows clinical deterioration; improves neurological manifestations (incl. neuro-imaging); improves seizure/epilepsy control; improves systemic manifestations. Some go on to needing liver transplantation
Sources: Expert List
Intellectual disability syndromic and non-syndromic v2.6 DSCAM chirag patel reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 42063257, 28600779, 33170561; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.40 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v2.6 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Autism; ID to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.39 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v2.5 DSCAM chirag patel Publications for gene: DSCAM were set to PMID: 27824329; 28191889; 21904980
Intellectual disability syndromic and non-syndromic v2.4 DSCAM chirag patel Mode of inheritance for gene: DSCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.3 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v2.3 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Genetic Epilepsy v2.4 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Genetic Epilepsy v2.4 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Genetic Epilepsy v2.3 DSCAM chirag patel Marked gene: DSCAM as ready
Genetic Epilepsy v2.3 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Syndromic Retinopathy v1.2 DSCAM chirag patel Marked gene: DSCAM as ready
Syndromic Retinopathy v1.2 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Syndromic Retinopathy v1.2 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Syndromic Retinopathy v1.2 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Syndromic Retinopathy v1.1 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related
Review for gene: DSCAM was set to GREEN
Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.
Sources: Literature
Genetic Epilepsy v2.3 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related
Review for gene: DSCAM was set to GREEN
Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.
Sources: Literature
Mendeliome v2.38 DSCAM chirag patel changed review comment from: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction.

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.

NB: Green for biallelic, Amber for monoallelic; to: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.

NB: Green for biallelic, Amber for monoallelic
Genomic newborn screening: ICoNS v1.10 RPS24 Lilian Rudd Classified gene: RPS24 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.10 RPS24 Lilian Rudd Gene: rps24 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.9 RPS17 Lilian Rudd Classified gene: RPS17 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.9 RPS17 Lilian Rudd Gene: rps17 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.8 RPL5 Lilian Rudd Classified gene: RPL5 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.8 RPL5 Lilian Rudd Gene: rpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.7 RPL5 Lilian Rudd Marked gene: RPL5 as ready
Genomic newborn screening: ICoNS v1.7 RPL5 Lilian Rudd Gene: rpl5 has been removed from the panel.
Genomic newborn screening: ICoNS v1.7 RPL11 Lilian Rudd Classified gene: RPL11 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.7 RPL11 Lilian Rudd Gene: rpl11 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Classified gene: GLA as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Added comment: Comment on list classification: Challenge with age of onset variability and when to start treatment
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Gene: gla has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel Marked gene: BIRC6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel Gene: birc6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Review for gene: BIRC6 was set to RED
Added comment: PMID 42082826 reports 5 affected females from a single consanguineous Iranian family with premature ovarian insufficiency and a homozygous missense variant in BIRC6 (p.Arg3756Cys). The variant segregated in 4 affected females (5th not tested) and in an unaffected male sibling, indicating female‑limited penetrance. Mother was an unaffected carrier. A zebrafish birc6 knockout recapitulates POI‑like reproductive deficits (reduced fecundity, aberrant oocyte morphology, and elevated embryonic death). BIRC6 encodes a large inhibitor of apoptosis (IAP) protein that suppresses programmed cell death by targeting executioner caspases for ubiquitin‑mediated degradation and participates in autophagy and DNA‑damage response.
Sources: Literature
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Marked gene: CYP21A2 as ready
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Classified gene: CYP21A2 as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Added comment: Comment on list classification: Amber due to complexity of sequencing
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.2 SPEN chirag patel Classified gene: SPEN as Amber List (moderate evidence)
Congenital hypothyroidism v1.2 SPEN chirag patel Gene: spen has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.1 SPEN chirag patel Marked gene: SPEN as ready
Congenital hypothyroidism v1.1 SPEN chirag patel Gene: spen has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.1 SPEN chirag patel gene: SPEN was added
gene: SPEN was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: SPEN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEN were set to 42192612
Phenotypes for gene: SPEN were set to Congenital hypothyroidism, MONDO:0018612, SPEN-related
Review for gene: SPEN was set to AMBER
Added comment: 3 individuals from 3 unrelated Chinese families with isolated congenital hypothyroidism. WES identified rare biallelic SPEN variants (p.N1856S, p.E2583Q, p.G2372R, p.P2240L, p.S2306del). They report all variants would be classified as VUS. Unaffected parents confirmed heterozygote carriers in 2 families. Zebrafish spen morpholino knockdown confirmed diminished thyroid hormone synthesis by showing thyroid hypoplasia, significant reductions in total thyroid follicle number, and marked decreases in number of hormone-producing units and T4 immunofluorescence intensity.
Sources: Literature
Genomic newborn screening: ICoNS v1.4 PAH Lilian Rudd Classified gene: PAH as Green List (high evidence)
Genomic newborn screening: ICoNS v1.4 PAH Lilian Rudd Gene: pah has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.3 CD3D Lilian Rudd Classified gene: CD3D as Green List (high evidence)
Genomic newborn screening: ICoNS v1.3 CD3D Lilian Rudd Gene: cd3d has been classified as Green List (High Evidence).
Mendeliome v2.38 PERCC1 chirag patel Marked gene: PERCC1 as ready
Mendeliome v2.38 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Mendeliome v2.38 PERCC1 chirag patel Classified gene: PERCC1 as Green List (high evidence)
Mendeliome v2.38 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Mendeliome v2.37 PERCC1 chirag patel gene: PERCC1 was added
gene: PERCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERCC1 were set to 41577959; 42110144; 39473069; 36076104; 31217582; 39359949; 40174224
Phenotypes for gene: PERCC1 were set to Congenital diarrhea, MONDO:0000824, PERCC1-related
Review for gene: PERCC1 was set to GREEN
Added comment: 16 individuals from 13 families (6 consanguineous) with biallelic loss-of-function PERCC1 variants causing congenital enteropathy characterised by infancy‑onset intractable diarrhoea, failure to thrive and intestinal failure. Variant types include nonsense and deletions (intragenic and whole gene).

Mouse models showed that targeted deletion of PERCC1 led to reduced body weight and intestinal dysfunction, reversible by PERCC1 transgene insertion. RNA sequencing demonstrated that mice with the disrupted gene had reduced gastrin, somatostatin and ghrelin expression from enteroendocrine cells (EEC), and low serum gastrin implicating
PERCC1 in normal EEC function.
Sources: Literature
Genomic newborn screening: ICoNS v1.2 ALPL Lilian Rudd Classified gene: ALPL as Green List (high evidence)
Genomic newborn screening: ICoNS v1.2 ALPL Lilian Rudd Gene: alpl has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.127 chirag patel Added reviews for gene SPEN from panel Mendeliome
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Marked gene: ACADVL as ready
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Gene: acadvl has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Classified gene: ACADVL as Green List (high evidence)
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Gene: acadvl has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.126 chirag patel Copied gene SPEN from panel Mendeliome
Congenital hypothyroidism v0.126 SPEN chirag patel gene: SPEN was added
gene: SPEN was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPEN were set to 33057194; 33596411; 42192612
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, MIM# 619312; Congenital hypothyroidism, MONDO:0018612, SPEN-related
Mendeliome v2.36 SPEN chirag patel Publications for gene: SPEN were set to 33057194; 33596411
Mendeliome v2.35 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312 to Radio-Tartaglia syndrome, MIM# 619312; Congenital hypothyroidism, MONDO:0018612, SPEN-related
Mendeliome v2.34 SPEN chirag patel Mode of inheritance for gene: SPEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.33 SPEN chirag patel reviewed gene: SPEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, SPEN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.33 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Mendeliome v2.33 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Mendeliome v2.33 DOP1A Zornitza Stark Classified gene: DOP1A as Green List (high evidence)
Mendeliome v2.33 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Mendeliome v2.32 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Review for gene: DOP1A was set to GREEN
Added comment: PMID 42164854 reports five individuals from five families with de novo heterozygous loss‑of‑function or missense DOP1A variants causing a dominant neurodevelopmental disorder characterised by intellectual disability, developmental delay, seizures and autism.
PMID 42164854 also reports two families with homozygous variants, adding to the one previously described in PMID 38818041presenting with a recessive neurodevelopmental disorder that includes intellectual disability, developmental delay, seizures, brain malformations, ataxia, spasticity and nystagmus.

Extensive functional data including DOP1A knock‑down in Neuro2a cells which demonstrates increased nuclear phospholipids and lipid droplets; and a mouse knockout which recapitulates neuronal overgrowth, CDK2 nuclear accumulation and behavioural deficits.
Sources: Literature
Congenital hypothyroidism v0.125 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.123 Sangavi Sivagnanasundram Copied gene MCUR1 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.123 MCUR1 Sangavi Sivagnanasundram gene: MCUR1 was added
gene: MCUR1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MCUR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCUR1 were set to 42087238
Phenotypes for gene: MCUR1 were set to MCUR1-related neuromuscular disorder MONDO:0100546
Mendeliome v2.31 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312
Intellectual disability syndromic and non-syndromic v2.2 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312
Congenital hypothyroidism v0.124 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Autism v1.1 DSCAM chirag patel Classified gene: DSCAM as Amber List (moderate evidence)
Autism v1.1 DSCAM chirag patel Gene: dscam has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.260 chirag patel Copied gene DSCAM from panel Mendeliome
Syndromic Retinopathy v0.260 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Syndromic Retinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v1.833 chirag patel Added reviews for gene DSCAM from panel Mendeliome
Genetic Epilepsy v1.436 chirag patel Copied gene DSCAM from panel Mendeliome
Genetic Epilepsy v1.436 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.30 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.29 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.29 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.28 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.27 DSCAM chirag patel Publications for gene: DSCAM were set to 34253863; 32807774; 28600779; 21904980; 28191889; 27824329; 30095639; 23671607
Mendeliome v2.26 DSCAM chirag patel Mode of inheritance for gene: DSCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v2.25 DSCAM chirag patel reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 42063257, 28600779, 33170561; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v1.1 DSCAM chirag patel Marked gene: DSCAM as ready
Callosome v1.1 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Callosome v1.1 DSCAM chirag patel Classified gene: DSCAM as Red List (low evidence)
Callosome v1.1 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Callosome v1.0 DSCAM chirag patel reviewed gene: DSCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v2.25 MCUR1 Sangavi Sivagnanasundram gene: MCUR1 was added
gene: MCUR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCUR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCUR1 were set to 42087238
Phenotypes for gene: MCUR1 were set to MCUR1-related neuromuscular disorder MONDO:0100546
Review for gene: MCUR1 was set to RED
Added comment: PMID 42087238: One individual from consanguineous parents presenting with mild proximal muscle weakness and atrophy in lower limbs.
Homozygous variant was identified - c.802C>T(R268Ter) - Present in gnomAD v4.1 (MID popmax AF 0.0826%)
Patient fibroblasts lack MCUR1 protein and show reduced mitochondrial Ca2+ uptake, decreased ATP production and increased autophagic flux, supporting a mitochondrial myopathy. No additional families have been described.

No pathogenic variants have been reported in this gene. LoF is not an established mechanism of disease either. gnomAD v4.1 pLI = 0; o/e = 0.88 (0.68 - 1.16).
As of this review, there is no ClinGen review or Morbid entry in OMIM for this gene-disease association.
Sources: Literature
Mendeliome v2.24 SIT1 chirag patel Classified gene: SIT1 as Red List (low evidence)
Mendeliome v2.24 SIT1 chirag patel Gene: sit1 has been classified as Red List (Low Evidence).
Mendeliome v2.23 SIT1 chirag patel reviewed gene: SIT1: Rating: RED; Mode of pathogenicity: None; Publications: 42128181; Phenotypes: Inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v2.1 SIT1 chirag patel Classified gene: SIT1 as Red List (low evidence)
Combined Immunodeficiency v2.1 SIT1 chirag patel Gene: sit1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v2.0 SIT1 chirag patel reviewed gene: SIT1: Rating: RED; Mode of pathogenicity: None; Publications: 42128181; Phenotypes: Inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.23 NRXN1 Teresa Zhao reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30031152, 30873608; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.422 chirag patel Copied gene BIRC6 from panel Mendeliome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.422 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert Review Red,Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Mendeliome v2.23 BIRC6 chirag patel Marked gene: BIRC6 as ready
Mendeliome v2.23 BIRC6 chirag patel Gene: birc6 has been classified as Red List (Low Evidence).
Mendeliome v2.23 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Review for gene: BIRC6 was set to RED
Added comment: PMID 42082826 reports 5 affected females from a single consanguineous Iranian family with premature ovarian insufficiency and a homozygous missense variant in BIRC6 (p.Arg3756Cys). The variant segregated in 4 affected females (5th not tested) and in an unaffected male sibling, indicating female‑limited penetrance. Mother was an unaffected carrier. A zebrafish birc6 knockout recapitulates POI‑like reproductive deficits (reduced fecundity, aberrant oocyte morphology, and elevated embryonic death). BIRC6 encodes a large inhibitor of apoptosis (IAP) protein that suppresses programmed cell death by targeting executioner caspases for ubiquitin‑mediated degradation and participates in autophagy and DNA‑damage response.
Sources: Literature
Congenital Diarrhoea v2.2 PERCC1 chirag patel Marked gene: PERCC1 as ready
Congenital Diarrhoea v2.2 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v2.2 PERCC1 chirag patel Classified gene: PERCC1 as Green List (high evidence)
Congenital Diarrhoea v2.2 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v2.1 PERCC1 chirag patel gene: PERCC1 was added
gene: PERCC1 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: PERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERCC1 were set to 41577959; 42110144; 39473069; 36076104; 31217582; 39359949; 40174224
Phenotypes for gene: PERCC1 were set to Congenital diarrhea, MONDO:0000824, PERCC1-related
Review for gene: PERCC1 was set to GREEN
Added comment: 16 individuals from 13 families (6 consanguineous) with biallelic loss-of-function PERCC1 variants causing congenital enteropathy characterised by infancy‑onset intractable diarrhoea, failure to thrive and intestinal failure. Variant types include nonsense and deletions (intragenic and whole gene).

Mouse models showed that targeted deletion of PERCC1 led to reduced body weight and intestinal dysfunction, reversible by PERCC1 transgene insertion. RNA sequencing demonstrated that mice with the disrupted gene had reduced gastrin, somatostatin and ghrelin expression from enteroendocrine cells (EEC), and low serum gastrin implicating
PERCC1 in normal EEC function.
Sources: Literature
Regression v1.1 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v2.22 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Mendeliome v2.21 WDR45 Zornitza Stark Publications for gene: WDR45 were set to 30842224
Mendeliome v2.20 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v2.1 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v2.0 WDR45 Zornitza Stark edited their review of gene: WDR45: Changed phenotypes: Neurodegeneration with brain iron accumulation 5, MIM# 300894; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Incidentalome v1.2 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Incidentalome v1.2 RNF43 Zornitza Stark Gene: rnf43 has been classified as Green List (High Evidence).
Incidentalome v1.2 RNF43 Zornitza Stark Phenotypes for gene: RNF43 were changed from Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108 to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108; Hereditary haemochromatosis, MONDO:0006507, RNF43-related
Incidentalome v1.1 RNF43 Zornitza Stark Publications for gene: RNF43 were set to PMID: 24512911, 34541672, 27329244, 27081527, 29330307
Incidentalome v1.0 RNF43 Zornitza Stark reviewed gene: RNF43: Rating: RED; Mode of pathogenicity: None; Publications: 41024252; Phenotypes: Hereditary haemochromatosis, MONDO:0006507, RNF43-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark Gene: rnf43 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark gene: RNF43 was added
gene: RNF43 was added to Metal Metabolism Disorders. Sources: Literature
founder tags were added to gene: RNF43.
Mode of inheritance for gene: RNF43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF43 were set to 41024252
Phenotypes for gene: RNF43 were set to Hereditary haemochromatosis, MONDO:0006507, RNF43-related
Review for gene: RNF43 was set to RED
Added comment: PMID 41024252 reports 15 individuals from 13 families with a homozygous LoF RNF43 variant c.1403C>G (p.Ser468*) presenting as hereditary haemochromatosis, adult‑onset iron overload. Founder variant. No other supportive data.
Sources: Literature
Autoinflammatory Disorders v3.1 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331; 40666351; https://dx.doi.org/10.2139/ssrn.5370606
Autoinflammatory Disorders v3.0 PSMB8 Zornitza Stark edited their review of gene: PSMB8: Added comment: Preprints describing mono-allelic association now published. PMID 42167218 describes five families with monoallelic missense PSMB8 variants and PMID 41253591 adds eight families with the recurrent heterozygous p.G209R variant, together totalling 13 families with dominant‑negative disruption of immunoproteasome assembly.; Changed publications: 21129723, 21881205, 21852578, 21953331, 42167218, 41253591; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.19 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331; 40666351; https://dx.doi.org/10.2139/ssrn.5370606
Mendeliome v2.18 PSMB8 Zornitza Stark edited their review of gene: PSMB8: Added comment: Preprints describing mono-allelic association now published. PMID 42167218 describes five families with monoallelic missense PSMB8 variants and PMID 41253591 adds eight families with the recurrent heterozygous p.G209R variant, together totalling 13 families with dominant‑negative disruption of immunoproteasome assembly.; Changed publications: 21129723, 21881205, 21852578, 21953331, 42167218, 41253591; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v2.0 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Defects of intrinsic and innate immunity v2.0 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.2 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v2.1 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v2.1 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v2.0 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.18 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.17 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Marked gene: ADGRG2 as ready
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Gene: adgrg2 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Mode of inheritance for gene: ADGRG2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.17 ADGRG2 Zornitza Stark Mode of inheritance for gene: ADGRG2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v2.1 SNORD116-1 Boris Keren gene: SNORD116-1 was added
gene: SNORD116-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SNORD116-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD116-1 were set to PMID: 24916642
Phenotypes for gene: SNORD116-1 were set to Intellectual disability, obesity, hypotonia
Penetrance for gene: SNORD116-1 were set to Complete
Mode of pathogenicity for gene: SNORD116-1 was set to Other
Review for gene: SNORD116-1 was set to GREEN
gene: SNORD116-1 was marked as current diagnostic
Added comment: The paternal deletion of the SNORD166 cluster is the critical region of Prader Willi syndrome.
Sources: Literature
Congenital hypothyroidism v0.123 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Congenital hypothyroidism v0.122 Rylee Peters Copied gene DTX2 from panel Mendeliome
Congenital hypothyroidism v0.122 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Congenital hypothyroidism. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Mendeliome v2.16 DTX2 Rylee Peters Marked gene: DTX2 as ready
Mendeliome v2.16 DTX2 Rylee Peters Gene: dtx2 has been classified as Red List (Low Evidence).
Mendeliome v2.16 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Review for gene: DTX2 was set to RED
Added comment: PMID: 42192612 reports 1 individual from 1 family with biallelic missense DTX2 variants (variants not phased/segregated) presenting with congenital hypothyroidism, isolated thyroid dysfunction, childhood‑onset. Zebrafish morpholino knockdown of dtx2 caused thyroid hypoplasia and reduced T4.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v2.3 HRAS Rylee Peters Phenotypes for gene: HRAS were changed from Congenital myopathy with excess of muscle spindles (MIM#218040) to Congenital myopathy with excess of muscle spindles (MIM#218040); Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Deleted their comment
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Classified gene: HRAS as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Gene: hras has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v2.1 HRAS Rylee Peters Added comment: Comment on phenotypes: Congenital myopathy with excess of muscle spindles (MIM#218040); Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.1 HRAS Rylee Peters Phenotypes for gene: HRAS were changed from Congenital myopathy with excess of muscle spindles (MIM#218040) to Congenital myopathy with excess of muscle spindles (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.0 HRAS Rylee Peters reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v1.181 Lucy Spencer Copied gene ACTRT1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.181 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Mendeliome v2.15 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Review for gene: ACTRT1 was set to RED
Added comment: PMID: 28869610 p.Met183Asnfs*17 in ACTRT identified in 2 families with Bazex–Dupré–Christol syndrome (BDCS) - congenital hypotrichosis, follicular atrophoderma, and predisposition to basal cell carcinoma. This variant is very common in gnomad with thousands of hets, over 900 hemizygotes and 6 homozygotes. 4 other families with BDCS were also investigated but only non-coding variants in far upstream/downstream regions were identified. These regions were postulated to be enhancers and the variants were shown to impair the enhancers activity and ACTRT1 expression.

PMID: 33972689 no new patients but provides further functional support for ACTRT1 and the p.Met183Asnfs*17 variant’s role in BDCS.

Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related - RED

PMID: 34422805 Identified ACTRT1 missense variants in two individuals with acephalic spermatozoa. Arg32His has 5 hemizygotes in gnomad while Tyr221Cys is absent. Both variants were maternally inherited. ACTRT1 knockout mice showed acephalic spermatozoa.

PMID: 39267058 Identified Val57Met in a male with oligoasthenoteratozoospermia. This variant has 10 hemizygotes in gnomad

Infertility disorder, MONDO:0005047, ACTRT1-related - RED/AMBER
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.832 Lucy Spencer Copied gene HDAC2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.832 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Mendeliome v2.14 HDAC2 Lucy Spencer Classified gene: HDAC2 as Green List (high evidence)
Mendeliome v2.14 HDAC2 Lucy Spencer Gene: hdac2 has been classified as Green List (High Evidence).
Mendeliome v2.13 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Review for gene: HDAC2 was set to GREEN
Added comment: PMID: 27620904 In a large syndromic ID cohort one de novo missense in HDAC2 was identified Gly28Asp (filtered out in gnomad). This individual is also present in DECIPHER where the phenotype listed are: hypotonia, autistic behaviour, delayed speech and language development, developmental regression, hyperactivity, intellectual disability, motor stereotypy, and symptomatic seizures.

PMID: 30806031 Met31Ile identified as de novo in an individual with a phenotype resembling Cornelia de Lange syndrome - severe developmental delay, limb abnormalities, congenital heart defect, cryptorchidism and hypoplastic genitalia, growth retardation, and characteristic craniofacial features. The variant is absent from gnomad. This individual also had a 5.6Mb copy number gain at 15q11.2q13.1 which is associated with a developmental disorder.

PMID: 38753158 An individual clinically diagnosed with Rubenstein Tabi syndrome who had negative genetic testing for known RSTS genes. Phenotype included ID, growth and motor delay, dysmorphisms (synophrys, prominent columella, short philtrum, high nasal root, abnormal ears with prominent antihelix), broad halluces, speech delay, feeding problems and recurrent infections, vertebral anomalies, hypoplasia of corpus callosum, hypermetropia and early puberty. Identified a de novo frameshift p.(K444Lfs*61) in HDAC2 which is an elongation variant. This variant is absent from gnomad but other elongation variants are present with 4-13 hets. The variant was predicted to disrupt the NLS and studies in transfected cells showed protein mislocalisation. HDAC2 protein abundance was also reduced in patient cells, and patient cells showed similar differentially expressed genes to RSTS patients.

The two missense are near each other and are present at or near annotated binding sites in DECIPHER, both very well conserved residues and one of the paper described this region as needed for the catalytic activity of the deacetylase. Borderline amber/green due to lack of functional evidence for the missense variants and the presence of other elongation variants in gnomad (however it is unclear if they also affect the NLS).
Sources: Literature
Mendeliome v2.12 HECW2 Sangavi Sivagnanasundram changed review comment from: Classified as MODERATE by ClinGen ID and Autism GCEP on 22/04/2026 - https://search.clinicalgenome.org/CCID:005049

PMID: 40812465 - additional proband from consanguineous family of Afghani descent presenting with evere microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Homozygous frameshift variant identified (c.3601_3602insT, p.Y1201Lfs∗7) - variant is absent from gnomAD v4.1.; to: Classified as MODERATE by ClinGen ID and Autism GCEP on 22/04/2026 - https://search.clinicalgenome.org/CCID:005049

PMID: 40812465 - additional proband from consanguineous family of Afghani descent presenting with severe microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Homozygous frameshift variant identified (c.3601_3602insT, p.Y1201Lfs∗7) - variant is absent from gnomAD v4.1.
Mendeliome v2.12 HECW2 Sangavi Sivagnanasundram Phenotypes for gene: HECW2 were changed from Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly to complex neurodevelopmental disorder MONDO:0100038
Mendeliome v2.11 HECW2 Sangavi Sivagnanasundram Publications for gene: HECW2 were set to 29807643; 29395664; 27334371; 27389779
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Marked gene: FANCA as ready
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Gene: fanca has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Classified gene: FANCA as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Gene: fanca has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v1.2 FANCA Krithika Murali gene: FANCA was added
gene: FANCA was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to PMID: 23653579
Phenotypes for gene: FANCA were set to Fanconi anaemia complementation group A - MONDO:0009215
Review for gene: FANCA was set to GREEN
Added comment: FANCA also associated with hydrocephalus (PMID:23653579). Note internal case of prenatal presentation with hydrocephalus as the primary presenting feature with additional anomalies noted on serial imaging, secondary to FANCA.

PMID:23653579 - other Fanconi anaemia genes also associated with VACTERL-H spectrum.
Sources: Literature
Mendeliome v2.10 RARS1 Sangavi Sivagnanasundram Phenotypes for gene: RARS1 were changed from Leukodystrophy, hypomyelinating, 9 MIM# 616140 to hypomyelinating leukodystrophy 9 MONDO:0014506; Leukodystrophy, hypomyelinating, 9 MIM# 616140
Mendeliome v2.9 RARS1 Sangavi Sivagnanasundram Publications for gene: RARS1 were set to 31814314
Mendeliome v2.8 RARS1 Sangavi Sivagnanasundram reviewed gene: RARS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33515434; Phenotypes: hypomyelinating leukodystrophy 9 MONDO:0014506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 STT3B Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen Congenital Disorders of Glycoylation GCEP - https://search.clinicalgenome.org/CCID:009271; to: Classified as LIMITED by ClinGen Congenital Disorders of Glycosylation GCEP - https://search.clinicalgenome.org/CCID:009271
Mendeliome v2.8 STT3B Sangavi Sivagnanasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital disorder of glycosylation MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 CFAP43 Sangavi Sivagnanasundram reviewed gene: CFAP43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: spermatogenic failure 19 MONDO:0054723, primary ciliary dyskinesia MONDO:0016575, normal pressure hydrocephalus MONDO:0009366; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v1.1 CFAP43 Sangavi Sivagnanasundram gene: CFAP43 was added
gene: CFAP43 was added to Hydrocephalus_Ventriculomegaly. Sources: ClinGen
disputed tags were added to gene: CFAP43.
Mode of inheritance for gene: CFAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFAP43 were set to normal pressure hydrocephalus MONDO:0009366
Review for gene: CFAP43 was set to RED
Added comment: DISPUTED by ClinGen Motile Ciliopathy GCEP on 09/04/2026 https://search.clinicalgenome.org/CCID:004426
Sources: ClinGen
Ciliary Dyskinesia v2.0 CFAP43 Sangavi Sivagnanasundram reviewed gene: CFAP43: Rating: RED; Mode of pathogenicity: None; Publications: 41341611; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v2.0 CFAP43 Sangavi Sivagnanasundram Tag disputed was removed from gene: CFAP43.
Mendeliome v2.8 SCO2 Sangavi Sivagnanasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 PDE1C Sangavi Sivagnanasundram reviewed gene: PDE1C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.8 HECW2 Sangavi Sivagnanasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40812465; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 CST3 Sangavi Sivagnanasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy MONDO:0979226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.8 PCK1 Sangavi Sivagnanasundram reviewed gene: PCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28216384, 34622459; Phenotypes: phosphoenolpyruvate carboxykinase deficiency, cytosolic MONDO:0009866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 MOCS3 Sangavi Sivagnanasundram reviewed gene: MOCS3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 MONDO:0980701; Mode of inheritance: None
Mendeliome v2.8 GATM Sangavi Sivagnanasundram changed review comment from: AD association - Classified as MODERATE by ClinGen Tubulopathy GCEp on 30/04/2026: https://search.clinicalgenome.org/CCID:009288

AR association - Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930; to: AD association - Classified as MODERATE by ClinGen Tubulopathy GCEP on 30/04/2026: https://search.clinicalgenome.org/CCID:009288

AR association - Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930
Mendeliome v2.8 GATM Sangavi Sivagnanasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: AGAT deficiency MONDO:0012996, Fanconi renotubular syndrome 1 MONDO:0024525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.8 TRA2B Sangavi Sivagnanasundram reviewed gene: TRA2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: None
Mendeliome v2.8 DNAH10 Sangavi Sivagnanasundram reviewed gene: DNAH10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: spermatogenic failure 56 MONDO:0030430, primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 TMEM163 Sangavi Sivagnanasundram Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to leukodystrophy, hypomyelinating, 25 MONDO:0859378
Mendeliome v2.7 TMEM163 Sangavi Sivagnanasundram Publications for gene: TMEM163 were set to PMID: 35953447
Mendeliome v2.6 TMEM163 Sangavi Sivagnanasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: None; Publications: 35455965, 35953447; Phenotypes: leukodystrophy, hypomyelinating, 25 MONDO:0859378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.6 GSX2 Sangavi Sivagnanasundram commented on gene: GSX2: Classified as MODERATE by ClinGen Cerebral Palsy GCEP on 18/05/2026 - https://search.clinicalgenome.org/CCID:005018
Mendeliome v2.6 DENND5B Sangavi Sivagnanasundram reviewed gene: DENND5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.6 RHOH Sangavi Sivagnanasundram Phenotypes for gene: RHOH were changed from {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 to epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666
Mendeliome v2.5 RHOH Sangavi Sivagnanasundram reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.5 PTCRA Sangavi Sivagnanasundram Phenotypes for gene: PTCRA were changed from Immunodeficiency 126, MIM# 620931 to immunodeficiency 126, susceptibility to MONDO:0975761
Mendeliome v2.4 PTCRA Sangavi Sivagnanasundram Publications for gene: PTCRA were set to 38422122
Mendeliome v2.3 PTCRA Sangavi Sivagnanasundram reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122, 39805825; Phenotypes: immunodeficiency 126, susceptibility to MONDO:0975761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.3 ZBTB18 Sangavi Sivagnanasundram Phenotypes for gene: ZBTB18 were changed from Mental retardation, autosomal dominant 22, MIM# 612337 to complex neurodevelopmental disorder MONDO:0100038
Mendeliome v2.2 ZBTB18 Sangavi Sivagnanasundram Publications for gene: ZBTB18 were set to 27598823; 29573576
Mendeliome v2.1 ZBTB18 Sangavi Sivagnanasundram reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 31112317; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.1 KCNJ11 Sangavi Sivagnanasundram reviewed gene: KCNJ11: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967, hyperinsulinemic hypoglycemia, familial, 2 MONDO:0011153; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.1 GCK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Monogenic Diabetes VCEP on 02/06/2026 - https://search.clinicalgenome.org/CCID:009345; to: Classified as DEFINITIVE by ClinGen Monogenic Diabetes VCEP on 02/06/2026 - https://search.clinicalgenome.org/CCID:009345

Mechanism of disease is LoF.
Mendeliome v2.1 GCK Sangavi Sivagnanasundram reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.1 UFM1 Sangavi Sivagnanasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35189806; Phenotypes: leukodystrophy, hypomyelinating, 14 MONDO:0033486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.1 STN1 Sangavi Sivagnanasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27432940, 34110109, 32627942; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0015026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.47 Sangavi Sivagnanasundram Added reviews for gene NCKAP1L from panel Mendeliome
Autoinflammatory Disorders v2.48 Sangavi Sivagnanasundram Added reviews for gene NCKAP1L from panel Mendeliome
Mendeliome v2.1 NCKAP1L Sangavi Sivagnanasundram reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: immunodeficiency 72 with autoinflammation MONDO:0033551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.1 PTBP1 Lucy Spencer changed review comment from: PMID: 40965981 27 individuals with abnormal prenatal ultrasound in thirteen (48%) including short femora, IUGR, hydramnios, increased nuchal translucency, asymmetry of heart cavities, and bilateral hydronephrosis. Skeletal anomalies were seen in 24 (89%), short stature/limbs in 63%, facial dysmorphism 25 (93%), developmental delay in 78%, behavioral problems in 30% and ID in 26% generally mild/moderate, 43% had variable brain MRI abnormalities. additional features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%).

Variants a mix of missense and startloss, and were confirmed de novo in 23/17 cases.

Various functional studies showed reduced nuclear localization and enhanced cytoplasmic retention, with start-loss
variants also leading to increased protein stability.; to: PMID: 40965981 27 individuals with abnormal prenatal ultrasound in thirteen (48%) including short femora, IUGR, hydramnios, increased nuchal translucency, asymmetry of heart cavities, and bilateral hydronephrosis. Skeletal anomalies were seen in 24 (89%), short stature/limbs in 63%, facial dysmorphism 25 (93%), developmental delay in 78%, behavioral problems in 30% and ID in 26% generally mild/moderate, 43% had variable brain MRI abnormalities. additional features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%).

Variants a mix of missense and startloss, and were confirmed de novo in 23/27 cases.

Various functional studies showed reduced nuclear localization and enhanced cytoplasmic retention, with start-loss
variants also leading to increased protein stability.
Intellectual disability syndromic and non-syndromic v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Intellectual disability syndromic and non-syndromic v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Mendeliome v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Mendeliome v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Hyperparathyroidism v1.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Hyperparathyroidism v1.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Hyperparathyroidism v1.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Hyperparathyroidism v1.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Hyperparathyroidism v1.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Hyperparathyroidism v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Hyperparathyroidism v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.12
Familial hypocalciuric hypercalcaemia v1.0 GNA11 Gene migrated from ENSG00000088256 to ENSG00000088256 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 AP2S1 Gene migrated from ENSG00000042753 to ENSG00000042753 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.7
Adrenal insufficiency v1.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Adrenal insufficiency v1.0 GPR161 Gene migrated from ENSG00000143147 to ENSG00000143147 (gene set migration)
Adrenal insufficiency v1.0 TEDC1 Gene symbol changed from C14orf80 to TEDC1 during gene set migration (ENSG00000185347 -> ENSG00000185347)
Adrenal insufficiency v1.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Adrenal insufficiency v1.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Adrenal insufficiency v1.0 WNT4 Gene migrated from ENSG00000162552 to ENSG00000162552 (gene set migration)
Adrenal insufficiency v1.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Adrenal insufficiency v1.0 ESRP2 Gene migrated from ENSG00000103067 to ENSG00000103067 (gene set migration)
Adrenal insufficiency v1.0 ARNT2 Gene migrated from ENSG00000172379 to ENSG00000172379 (gene set migration)
Adrenal insufficiency v1.0 MCM4 Gene migrated from ENSG00000104738 to ENSG00000104738 (gene set migration)
Adrenal insufficiency v1.0 IARS2 Gene migrated from ENSG00000067704 to ENSG00000067704 (gene set migration)
Adrenal insufficiency v1.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Adrenal insufficiency v1.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Adrenal insufficiency v1.0 RBM28 Gene migrated from ENSG00000106344 to ENSG00000106344 (gene set migration)
Adrenal insufficiency v1.0 MRAP Gene migrated from ENSG00000170262 to ENSG00000170262 (gene set migration)
Adrenal insufficiency v1.0 MC2R Gene migrated from ENSG00000185231 to ENSG00000185231 (gene set migration)
Adrenal insufficiency v1.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Adrenal insufficiency v1.0 TBX19 Gene migrated from ENSG00000143178 to ENSG00000143178 (gene set migration)
Adrenal insufficiency v1.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Adrenal insufficiency v1.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Adrenal insufficiency v1.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Adrenal insufficiency v1.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Adrenal insufficiency v1.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Adrenal insufficiency v1.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Adrenal insufficiency v1.0 HID1 Gene migrated from ENSG00000167861 to ENSG00000167861 (gene set migration)
Adrenal insufficiency v1.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Adrenal insufficiency v1.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Adrenal insufficiency v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Adrenal insufficiency v1.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Adrenal insufficiency v1.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Adrenal insufficiency v1.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Adrenal insufficiency v1.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Adrenal insufficiency v1.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Adrenal insufficiency v1.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Adrenal insufficiency v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Adrenal insufficiency v1.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Adrenal insufficiency v1.0 TXNRD2 Gene migrated from ENSG00000184470 to ENSG00000184470 (gene set migration)
Adrenal insufficiency v1.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Adrenal insufficiency v1.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Adrenal insufficiency v1.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Adrenal insufficiency v1.0 ROBO1 Gene migrated from ENSG00000169855 to ENSG00000169855 (gene set migration)
Adrenal insufficiency v1.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Adrenal insufficiency v1.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Adrenal insufficiency v1.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Adrenal insufficiency v1.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Adrenal insufficiency v1.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Adrenal insufficiency v1.0 NFKB2 Gene migrated from ENSG00000077150 to ENSG00000077150 (gene set migration)
Adrenal insufficiency v1.0 SGPL1 Gene migrated from ENSG00000166224 to ENSG00000166224 (gene set migration)
Adrenal insufficiency v1.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Adrenal insufficiency v1.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Adrenal insufficiency v1.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Adrenal insufficiency v1.0 POMC Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration)
Adrenal insufficiency v1.0 PCSK1 Gene migrated from ENSG00000175426 to ENSG00000175426 (gene set migration)
Adrenal insufficiency v1.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Adrenal insufficiency v1.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Adrenal insufficiency v1.0 FOXA2 Gene migrated from ENSG00000125798 to ENSG00000125798 (gene set migration)
Adrenal insufficiency v1.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Adrenal insufficiency v1.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
Adrenal insufficiency v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.76
Congenital adrenal hyperplasia v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Congenital adrenal hyperplasia v1.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Congenital adrenal hyperplasia v1.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Congenital adrenal hyperplasia v1.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Congenital adrenal hyperplasia v1.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Congenital adrenal hyperplasia v1.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Congenital adrenal hyperplasia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.8
Hypogonadotropic hypogonadism v1.0 ISCA-37478-Loss Region ISCA-37478-Loss migrated (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3E Gene migrated from ENSG00000170381 to ENSG00000170381 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TFR2 Gene migrated from ENSG00000106327 to ENSG00000106327 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARHGAP5 Gene migrated from ENSG00000100852 to ENSG00000100852 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SLC40A1 Gene migrated from ENSG00000138449 to ENSG00000138449 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Hypogonadotropic hypogonadism v1.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Hypogonadotropic hypogonadism v1.0 IL17RD Gene migrated from ENSG00000144730 to ENSG00000144730 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NSMF Gene migrated from ENSG00000165802 to ENSG00000165802 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DUSP6 Gene migrated from ENSG00000139318 to ENSG00000139318 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NHLH2 Gene migrated from ENSG00000177551 to ENSG00000177551 (gene set migration)
Hypogonadotropic hypogonadism v1.0 AXL Gene migrated from ENSG00000167601 to ENSG00000167601 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Hypogonadotropic hypogonadism v1.0 IFT56 Gene symbol changed from TTC26 to IFT56 during gene set migration (ENSG00000105948 -> ENSG00000105948)
Hypogonadotropic hypogonadism v1.0 NRP2 Gene migrated from ENSG00000118257 to ENSG00000118257 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NRP1 Gene migrated from ENSG00000099250 to ENSG00000099250 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FLRT3 Gene migrated from ENSG00000125848 to ENSG00000125848 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HS6ST1 Gene migrated from ENSG00000136720 to ENSG00000136720 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KISS1 Gene migrated from ENSG00000170498 to ENSG00000170498 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RBM28 Gene migrated from ENSG00000106344 to ENSG00000106344 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SPRY4 Gene migrated from ENSG00000187678 to ENSG00000187678 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CCDC141 Gene migrated from ENSG00000163492 to ENSG00000163492 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ESRP2 Gene migrated from ENSG00000103067 to ENSG00000103067 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PRDM13 Gene migrated from ENSG00000112238 to ENSG00000112238 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POU6F2 Gene migrated from ENSG00000106536 to ENSG00000106536 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNB1 Gene migrated from ENSG00000164050 to ENSG00000164050 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FEZF1 Gene migrated from ENSG00000128610 to ENSG00000128610 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARNT2 Gene migrated from ENSG00000172379 to ENSG00000172379 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNA1 Gene migrated from ENSG00000114554 to ENSG00000114554 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NLGN3 Gene migrated from ENSG00000196338 to ENSG00000196338 (gene set migration)
Hypogonadotropic hypogonadism v1.0 AMH Gene migrated from ENSG00000104899 to ENSG00000104899 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NDNF Gene migrated from ENSG00000173376 to ENSG00000173376 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNRH1 Gene migrated from ENSG00000147437 to ENSG00000147437 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNAI2 Gene migrated from ENSG00000114353 to ENSG00000114353 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FSHB Gene migrated from ENSG00000131808 to ENSG00000131808 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FOXA2 Gene migrated from ENSG00000125798 to ENSG00000125798 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGF8 Gene migrated from ENSG00000107831 to ENSG00000107831 (gene set migration)
Hypogonadotropic hypogonadism v1.0 EIF2S3 Gene migrated from ENSG00000130741 to ENSG00000130741 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CHD7 Gene migrated from ENSG00000171316 to ENSG00000171316 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARHGAP35 Gene migrated from ENSG00000160007 to ENSG00000160007 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGF17 Gene migrated from ENSG00000158815 to ENSG00000158815 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TBX3 Gene migrated from ENSG00000135111 to ENSG00000135111 (gene set migration)
Hypogonadotropic hypogonadism v1.0 MT-TS2 Gene migrated from ENSG00000210184 to ENSG00000210184 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TUBB3 Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration)
Hypogonadotropic hypogonadism v1.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RNF216 Gene migrated from ENSG00000011275 to ENSG00000011275 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX11 Gene migrated from ENSG00000176887 to ENSG00000176887 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SMCHD1 Gene migrated from ENSG00000101596 to ENSG00000101596 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3F Gene migrated from ENSG00000001617 to ENSG00000001617 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PCSK1 Gene migrated from ENSG00000175426 to ENSG00000175426 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNA3 Gene migrated from ENSG00000130827 to ENSG00000130827 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KLB Gene migrated from ENSG00000134962 to ENSG00000134962 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HID1 Gene migrated from ENSG00000167861 to ENSG00000167861 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNRHR Gene migrated from ENSG00000109163 to ENSG00000109163 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Hypogonadotropic hypogonadism v1.0 BMP4 Gene migrated from ENSG00000125378 to ENSG00000125378 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ANOS1 Gene migrated from ENSG00000011201 to ENSG00000011201 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ROBO1 Gene migrated from ENSG00000169855 to ENSG00000169855 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX2 Gene migrated from ENSG00000181449 to ENSG00000181449 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LEPR Gene migrated from ENSG00000116678 to ENSG00000116678 (gene set migration)
Hypogonadotropic hypogonadism v1.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CPE Gene migrated from ENSG00000109472 to ENSG00000109472 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NOS1 Gene migrated from ENSG00000089250 to ENSG00000089250 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DLG2 Gene migrated from ENSG00000150672 to ENSG00000150672 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TCF12 Gene migrated from ENSG00000140262 to ENSG00000140262 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TACR3 Gene migrated from ENSG00000169836 to ENSG00000169836 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TAC3 Gene migrated from ENSG00000166863 to ENSG00000166863 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NEUROG3 Gene migrated from ENSG00000122859 to ENSG00000122859 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROKR2 Gene migrated from ENSG00000101292 to ENSG00000101292 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROK2 Gene migrated from ENSG00000163421 to ENSG00000163421 (gene set migration)
Hypogonadotropic hypogonadism v1.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Hypogonadotropic hypogonadism v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.137
Primary nodular adrenocortical disease v1.0 KDM1A Gene migrated from ENSG00000004487 to ENSG00000004487 (gene set migration)
Primary nodular adrenocortical disease v1.0 PRKACA Gene migrated from ENSG00000072062 to ENSG00000072062 (gene set migration)
Primary nodular adrenocortical disease v1.0 ARMC5 Gene migrated from ENSG00000140691 to ENSG00000140691 (gene set migration)
Primary nodular adrenocortical disease v1.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Primary nodular adrenocortical disease v1.0 PDE8B Gene migrated from ENSG00000113231 to ENSG00000113231 (gene set migration)
Primary nodular adrenocortical disease v1.0 PDE11A Gene migrated from ENSG00000128655 to ENSG00000128655 (gene set migration)
Primary nodular adrenocortical disease v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.15
Hereditary Pigmentary Disorders v2.0 SNAI2 Gene migrated from ENSG00000019549 to ENSG00000019549 (gene set migration)
Hereditary Pigmentary Disorders v2.0 NOP10 Gene migrated from ENSG00000182117 to ENSG00000182117 (gene set migration)
Hereditary Pigmentary Disorders v2.0 EDNRB Gene migrated from ENSG00000136160 to ENSG00000136160 (gene set migration)
Hereditary Pigmentary Disorders v2.0 EDN3 Gene migrated from ENSG00000124205 to ENSG00000124205 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PAX3 Gene migrated from ENSG00000135903 to ENSG00000135903 (gene set migration)
Hereditary Pigmentary Disorders v2.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Hereditary Pigmentary Disorders v2.0 MITF Gene migrated from ENSG00000187098 to ENSG00000187098 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Hereditary Pigmentary Disorders v2.0 GPNMB Gene migrated from ENSG00000136235 to ENSG00000136235 (gene set migration)
Hereditary Pigmentary Disorders v2.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Hereditary Pigmentary Disorders v2.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ADAM10 Gene migrated from ENSG00000137845 to ENSG00000137845 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ACD Gene migrated from ENSG00000102977 to ENSG00000102977 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ABCB6 Gene migrated from ENSG00000115657 to ENSG00000115657 (gene set migration)
Hereditary Pigmentary Disorders v2.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TERC Gene migrated from ENSG00000270141 to ENSG00000270141 (gene set migration)
Hereditary Pigmentary Disorders v2.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POGLUT1 Gene migrated from ENSG00000163389 to ENSG00000163389 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POFUT1 Gene migrated from ENSG00000101346 to ENSG00000101346 (gene set migration)
Hereditary Pigmentary Disorders v2.0 RPA1 Gene migrated from ENSG00000132383 to ENSG00000132383 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PARN Gene migrated from ENSG00000140694 to ENSG00000140694 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Hereditary Pigmentary Disorders v2.0 OSMR Gene migrated from ENSG00000145623 to ENSG00000145623 (gene set migration)
Hereditary Pigmentary Disorders v2.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Hereditary Pigmentary Disorders v2.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POLH Gene migrated from ENSG00000170734 to ENSG00000170734 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Hereditary Pigmentary Disorders v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Hereditary Pigmentary Disorders v2.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Hereditary Pigmentary Disorders v2.0 SASH1 Gene migrated from ENSG00000111961 to ENSG00000111961 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PSENEN Gene migrated from ENSG00000205155 to ENSG00000205155 (gene set migration)
Hereditary Pigmentary Disorders v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KITLG Gene migrated from ENSG00000049130 to ENSG00000049130 (gene set migration)
Hereditary Pigmentary Disorders v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.7
Genomic newborn screening: ICoNS v1.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Genomic newborn screening: ICoNS v1.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Genomic newborn screening: ICoNS v1.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Genomic newborn screening: ICoNS v1.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Genomic newborn screening: ICoNS v1.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Genomic newborn screening: ICoNS v1.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ZAP70 Gene migrated from ENSG00000115085 to ENSG00000115085 (gene set migration)
Genomic newborn screening: ICoNS v1.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Genomic newborn screening: ICoNS v1.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Genomic newborn screening: ICoNS v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Genomic newborn screening: ICoNS v1.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Genomic newborn screening: ICoNS v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.41
Infertility and Recurrent Pregnancy Loss v2.0 ISCA-37494-Loss Region ISCA-37494-Loss: gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PDCD2 Gene migrated from ENSG00000071994 to ENSG00000071994 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPACA1 Gene migrated from ENSG00000118434 to ENSG00000118434 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASIC5 Gene migrated from ENSG00000256394 to ENSG00000256394 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KIF14 Gene migrated from ENSG00000118193 to ENSG00000118193 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TAF4B Gene migrated from ENSG00000141384 to ENSG00000141384 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PIEZO1 Gene migrated from ENSG00000103335 to ENSG00000103335 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP119 Gene symbol changed from CCDC189 to CFAP119 during gene set migration (ENSG00000196118 -> ENSG00000196118)
Infertility and Recurrent Pregnancy Loss v2.0 PDHA2 Gene migrated from ENSG00000163114 to ENSG00000163114 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CT55 Gene migrated from ENSG00000169551 to ENSG00000169551 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C1orf146 Gene migrated from ENSG00000203910 to ENSG00000203910 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPINK2 Gene migrated from ENSG00000128040 to ENSG00000128040 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP210L Gene migrated from ENSG00000143552 to ENSG00000143552 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PACRG Gene migrated from ENSG00000112530 to ENSG00000112530 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STIL Gene migrated from ENSG00000123473 to ENSG00000123473 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SMC1B Gene migrated from ENSG00000077935 to ENSG00000077935 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SOX8 Gene migrated from ENSG00000005513 to ENSG00000005513 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZPBP Gene migrated from ENSG00000042813 to ENSG00000042813 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ACR Gene migrated from ENSG00000100312 to ENSG00000100312 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TCFL5 Gene migrated from ENSG00000101190 to ENSG00000101190 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZNF185 Gene migrated from ENSG00000147394 to ENSG00000147394 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZNF597 Gene migrated from ENSG00000167981 to ENSG00000167981 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NXF3 Gene migrated from ENSG00000147206 to ENSG00000147206 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WNT6 Gene migrated from ENSG00000115596 to ENSG00000115596 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TACC3 Gene migrated from ENSG00000013810 to ENSG00000013810 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NKAPL Gene migrated from ENSG00000189134 to ENSG00000189134 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REC8 Gene migrated from ENSG00000100918 to ENSG00000100918 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RNF212B Gene migrated from ENSG00000215277 to ENSG00000215277 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 USP26 Gene migrated from ENSG00000134588 to ENSG00000134588 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TIMP2 Gene migrated from ENSG00000035862 to ENSG00000035862 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CPEB1 Gene migrated from ENSG00000214575 to ENSG00000214575 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IQUB Gene migrated from ENSG00000164675 to ENSG00000164675 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANAPC13 Gene migrated from ENSG00000129055 to ENSG00000129055 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPEM2 Gene symbol changed from C17orf74 to SPEM2 during gene set migration (ENSG00000184560 -> ENSG00000184560)
Infertility and Recurrent Pregnancy Loss v2.0 HELB Gene migrated from ENSG00000127311 to ENSG00000127311 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEKT3 Gene migrated from ENSG00000125409 to ENSG00000125409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP206 Gene migrated from ENSG00000272514 to ENSG00000272514 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PPP2R1B Gene migrated from ENSG00000137713 to ENSG00000137713 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AKAP3 Gene migrated from ENSG00000111254 to ENSG00000111254 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RAD51AP2 Gene migrated from ENSG00000214842 to ENSG00000214842 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MDC1 Gene migrated from ENSG00000137337 to ENSG00000137337 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CAPZA1 Gene migrated from ENSG00000116489 to ENSG00000116489 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TOP6BL Gene symbol changed from C11orf80 to TOP6BL during gene set migration (ENSG00000173715 -> ENSG00000173715)
Infertility and Recurrent Pregnancy Loss v2.0 NXT2 Gene migrated from ENSG00000101888 to ENSG00000101888 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC89 Gene migrated from ENSG00000179071 to ENSG00000179071 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FKBP4 Gene migrated from ENSG00000004478 to ENSG00000004478 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TULP2 Gene migrated from ENSG00000104804 to ENSG00000104804 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BRDT Gene migrated from ENSG00000137948 to ENSG00000137948 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PIWIL1 Gene migrated from ENSG00000125207 to ENSG00000125207 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP263 Gene symbol changed from CCDC113 to CFAP263 during gene set migration (ENSG00000103021 -> ENSG00000103021)
Infertility and Recurrent Pregnancy Loss v2.0 OOEP Gene migrated from ENSG00000203907 to ENSG00000203907 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP14 Gene migrated from ENSG00000158077 to ENSG00000158077 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HNRNPR Gene migrated from ENSG00000125944 to ENSG00000125944 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C4BPA Gene migrated from ENSG00000123838 to ENSG00000123838 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POF1B Gene migrated from ENSG00000124429 to ENSG00000124429 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CAPS Gene migrated from ENSG00000105519 to ENSG00000105519 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MAJIN Gene migrated from ENSG00000168070 to ENSG00000168070 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 APBB1 Gene migrated from ENSG00000166313 to ENSG00000166313 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ATG4D Gene migrated from ENSG00000130734 to ENSG00000130734 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DDOST Gene migrated from ENSG00000244038 to ENSG00000244038 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KPNA7 Gene migrated from ENSG00000185467 to ENSG00000185467 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NANOS1 Gene migrated from ENSG00000188613 to ENSG00000188613 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP3 Gene migrated from ENSG00000139351 to ENSG00000139351 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 INCENP Gene migrated from ENSG00000149503 to ENSG00000149503 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PROK2 Gene migrated from ENSG00000163421 to ENSG00000163421 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HSF2BP Gene migrated from ENSG00000160207 to ENSG00000160207 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHX8 Gene migrated from ENSG00000162624 to ENSG00000162624 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCM9 Gene migrated from ENSG00000111877 to ENSG00000111877 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANKRD31 Gene migrated from ENSG00000145700 to ENSG00000145700 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C14orf39 Gene migrated from ENSG00000179008 to ENSG00000179008 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BNC1 Gene migrated from ENSG00000169594 to ENSG00000169594 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 H6PD Gene migrated from ENSG00000049239 to ENSG00000049239 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FBXO43 Gene migrated from ENSG00000156509 to ENSG00000156509 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAAF4 Gene migrated from ENSG00000256061 to ENSG00000256061 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TP63 Gene migrated from ENSG00000073282 to ENSG00000073282 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HARS2 Gene migrated from ENSG00000112855 to ENSG00000112855 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FIGLA Gene migrated from ENSG00000183733 to ENSG00000183733 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXD1 Gene migrated from ENSG00000251493 to ENSG00000251493 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MSH5 Gene migrated from ENSG00000204410 to ENSG00000204410 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPEF2 Gene migrated from ENSG00000152582 to ENSG00000152582 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BCORL1 Gene migrated from ENSG00000085185 to ENSG00000085185 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CDC25A Gene migrated from ENSG00000164045 to ENSG00000164045 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ESR1 Gene migrated from ENSG00000091831 to ENSG00000091831 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CATSPER1 Gene migrated from ENSG00000175294 to ENSG00000175294 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GNRH1 Gene migrated from ENSG00000147437 to ENSG00000147437 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH12 Gene migrated from ENSG00000174844 to ENSG00000174844 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEPTIN4 Gene symbol changed from SEPT4 to SEPTIN4 during gene set migration (ENSG00000108387 -> ENSG00000108387)
Infertility and Recurrent Pregnancy Loss v2.0 TUBA1C Gene migrated from ENSG00000167553 to ENSG00000167553 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TUBA4A Gene migrated from ENSG00000127824 to ENSG00000127824 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP205 Gene migrated from ENSG00000155561 to ENSG00000155561 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP2 Gene migrated from ENSG00000196074 to ENSG00000196074 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KASH5 Gene symbol changed from CCDC155 to KASH5 during gene set migration (ENSG00000161609 -> ENSG00000161609)
Infertility and Recurrent Pregnancy Loss v2.0 MEIOB Gene migrated from ENSG00000162039 to ENSG00000162039 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TBPL2 Gene migrated from ENSG00000182521 to ENSG00000182521 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXL2 Gene migrated from ENSG00000183770 to ENSG00000183770 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MEI1 Gene migrated from ENSG00000167077 to ENSG00000167077 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CHEK1 Gene migrated from ENSG00000149554 to ENSG00000149554 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BTG4 Gene migrated from ENSG00000137707 to ENSG00000137707 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHCGR Gene migrated from ENSG00000138039 to ENSG00000138039 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP2 Gene migrated from ENSG00000022556 to ENSG00000022556 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MOS Gene migrated from ENSG00000172680 to ENSG00000172680 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCE1 Gene migrated from ENSG00000171772 to ENSG00000171772 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASTL Gene migrated from ENSG00000188886 to ENSG00000188886 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PANX1 Gene migrated from ENSG00000110218 to ENSG00000110218 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TLE6 Gene migrated from ENSG00000104953 to ENSG00000104953 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REC114 Gene migrated from ENSG00000183324 to ENSG00000183324 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WEE2 Gene migrated from ENSG00000214102 to ENSG00000214102 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PABPC1L Gene migrated from ENSG00000101104 to ENSG00000101104 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZFP36L2 Gene migrated from ENSG00000152518 to ENSG00000152518 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP7 Gene migrated from ENSG00000167634 to ENSG00000167634 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MSH4 Gene migrated from ENSG00000057468 to ENSG00000057468 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AMHR2 Gene migrated from ENSG00000135409 to ENSG00000135409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AMH Gene migrated from ENSG00000104899 to ENSG00000104899 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DHH Gene migrated from ENSG00000139549 to ENSG00000139549 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH1 Gene migrated from ENSG00000114841 to ENSG00000114841 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STAG3 Gene migrated from ENSG00000066923 to ENSG00000066923 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSHB Gene migrated from ENSG00000131808 to ENSG00000131808 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ELL3 Gene migrated from ENSG00000128886 to ENSG00000128886 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 UBE2B Gene migrated from ENSG00000119048 to ENSG00000119048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSHR Gene migrated from ENSG00000170820 to ENSG00000170820 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HFM1 Gene migrated from ENSG00000162669 to ENSG00000162669 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BMP15 Gene migrated from ENSG00000130385 to ENSG00000130385 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GDF9 Gene migrated from ENSG00000164404 to ENSG00000164404 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SOHLH1 Gene migrated from ENSG00000165643 to ENSG00000165643 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PSMC3IP Gene migrated from ENSG00000131470 to ENSG00000131470 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PRDM9 Gene migrated from ENSG00000164256 to ENSG00000164256 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PATL2 Gene migrated from ENSG00000229474 to ENSG00000229474 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NOBOX Gene migrated from ENSG00000106410 to ENSG00000106410 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCM8 Gene migrated from ENSG00000125885 to ENSG00000125885 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AURKC Gene migrated from ENSG00000105146 to ENSG00000105146 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP3 Gene migrated from ENSG00000188372 to ENSG00000188372 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP2 Gene migrated from ENSG00000103310 to ENSG00000103310 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP1 Gene migrated from ENSG00000149506 to ENSG00000149506 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TUBB8 Gene migrated from ENSG00000261456 to ENSG00000261456 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF4ENIF1 Gene migrated from ENSG00000184708 to ENSG00000184708 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCNB3 Gene migrated from ENSG00000147082 to ENSG00000147082 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RXFP2 Gene migrated from ENSG00000133105 to ENSG00000133105 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GGN Gene migrated from ENSG00000179168 to ENSG00000179168 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FKBP6 Gene migrated from ENSG00000077800 to ENSG00000077800 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DPY19L2 Gene migrated from ENSG00000177990 to ENSG00000177990 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SLC26A8 Gene migrated from ENSG00000112053 to ENSG00000112053 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KHDC3L Gene migrated from ENSG00000203908 to ENSG00000203908 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CDC20 Gene migrated from ENSG00000117399 to ENSG00000117399 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PADI6 Gene migrated from ENSG00000276747 to ENSG00000276747 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX11 Gene migrated from ENSG00000120498 to ENSG00000120498 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPAG6 Gene migrated from ENSG00000077327 to ENSG00000077327 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EXO1 Gene migrated from ENSG00000174371 to ENSG00000174371 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DDX3Y Gene migrated from ENSG00000067048 to ENSG00000067048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEPTIN12 Gene symbol changed from SEPT12 to SEPTIN12 during gene set migration (ENSG00000140623 -> ENSG00000140623)
Infertility and Recurrent Pregnancy Loss v2.0 PLCZ1 Gene migrated from ENSG00000139151 to ENSG00000139151 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZAR1 Gene migrated from ENSG00000182223 to ENSG00000182223 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP47 Gene migrated from ENSG00000165164 to ENSG00000165164 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AK7 Gene migrated from ENSG00000140057 to ENSG00000140057 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MLH3 Gene migrated from ENSG00000119684 to ENSG00000119684 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADGB Gene migrated from ENSG00000118492 to ENSG00000118492 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LRRC23 Gene migrated from ENSG00000010626 to ENSG00000010626 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HIPK4 Gene migrated from ENSG00000160396 to ENSG00000160396 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP5 Gene migrated from ENSG00000171487 to ENSG00000171487 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MOV10L1 Gene migrated from ENSG00000073146 to ENSG00000073146 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 YTHDC2 Gene migrated from ENSG00000047188 to ENSG00000047188 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADAD2 Gene migrated from ENSG00000140955 to ENSG00000140955 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPATA22 Gene migrated from ENSG00000141255 to ENSG00000141255 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASB9 Gene migrated from ENSG00000102048 to ENSG00000102048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 QRICH2 Gene migrated from ENSG00000129646 to ENSG00000129646 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP44 Gene migrated from ENSG00000206530 to ENSG00000206530 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AK9 Gene migrated from ENSG00000155085 to ENSG00000155085 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP91 Gene symbol changed from MAATS1 to CFAP91 during gene set migration (ENSG00000183833 -> ENSG00000183833)
Infertility and Recurrent Pregnancy Loss v2.0 TSGA10 Gene migrated from ENSG00000135951 to ENSG00000135951 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTC21A Gene migrated from ENSG00000168026 to ENSG00000168026 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SSX1 Gene migrated from ENSG00000126752 to ENSG00000126752 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADGRG2 Gene migrated from ENSG00000173698 to ENSG00000173698 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 INSL3 Gene migrated from ENSG00000248099 to ENSG00000248099 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TBC1D8 Gene migrated from ENSG00000204634 to ENSG00000204634 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP61 Gene migrated from ENSG00000089101 to ENSG00000089101 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC146 Gene migrated from ENSG00000135205 to ENSG00000135205 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REDIC1 Gene symbol changed from C12orf40 to REDIC1 during gene set migration (ENSG00000180116 -> ENSG00000180116)
Infertility and Recurrent Pregnancy Loss v2.0 ARMC12 Gene migrated from ENSG00000157343 to ENSG00000157343 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP251 Gene symbol changed from WDR66 to CFAP251 during gene set migration (ENSG00000158023 -> ENSG00000158023)
Infertility and Recurrent Pregnancy Loss v2.0 SUN5 Gene migrated from ENSG00000167098 to ENSG00000167098 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTC29 Gene migrated from ENSG00000137473 to ENSG00000137473 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPAG17 Gene migrated from ENSG00000155761 to ENSG00000155761 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNALI1 Gene migrated from ENSG00000163879 to ENSG00000163879 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPIDR Gene migrated from ENSG00000164808 to ENSG00000164808 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP43 Gene migrated from ENSG00000197748 to ENSG00000197748 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH9 Gene migrated from ENSG00000007174 to ENSG00000007174 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ARMC2 Gene migrated from ENSG00000118690 to ENSG00000118690 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TERB1 Gene migrated from ENSG00000249961 to ENSG00000249961 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RBBP7 Gene migrated from ENSG00000102054 to ENSG00000102054 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPATA16 Gene migrated from ENSG00000144962 to ENSG00000144962 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD6 Gene migrated from ENSG00000180113 to ENSG00000180113 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZMYND12 Gene migrated from ENSG00000066185 to ENSG00000066185 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZSWIM7 Gene migrated from ENSG00000214941 to ENSG00000214941 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCNP Gene symbol changed from CNTD2 to CCNP during gene set migration (ENSG00000105219 -> ENSG00000105219)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC188 Gene migrated from ENSG00000234409 to ENSG00000234409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KCTD19 Gene migrated from ENSG00000168676 to ENSG00000168676 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCMDC2 Gene migrated from ENSG00000178460 to ENSG00000178460 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AXDND1 Gene migrated from ENSG00000162779 to ENSG00000162779 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD9 Gene migrated from ENSG00000156414 to ENSG00000156414 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX44 Gene migrated from ENSG00000177673 to ENSG00000177673 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD12 Gene migrated from ENSG00000173809 to ENSG00000173809 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DLGAP5 Gene migrated from ENSG00000126787 to ENSG00000126787 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH6 Gene migrated from ENSG00000115423 to ENSG00000115423 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH2 Gene migrated from ENSG00000183914 to ENSG00000183914 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNHD1 Gene migrated from ENSG00000179532 to ENSG00000179532 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH10 Gene migrated from ENSG00000197653 to ENSG00000197653 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANOS1 Gene migrated from ENSG00000011201 to ENSG00000011201 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KCNU1 Gene migrated from ENSG00000215262 to ENSG00000215262 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CYP19A1 Gene migrated from ENSG00000137869 to ENSG00000137869 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ACTL7A Gene migrated from ENSG00000187003 to ENSG00000187003 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IQCN Gene symbol changed from KIAA1683 to IQCN during gene set migration (ENSG00000130518 -> ENSG00000130518)
Infertility and Recurrent Pregnancy Loss v2.0 ACTL9 Gene migrated from ENSG00000181786 to ENSG00000181786 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX14 Gene migrated from ENSG00000121101 to ENSG00000121101 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP221 Gene migrated from ENSG00000163075 to ENSG00000163075 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGF8 Gene migrated from ENSG00000107831 to ENSG00000107831 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GNRHR Gene migrated from ENSG00000109163 to ENSG00000109163 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP107 Gene migrated from ENSG00000111581 to ENSG00000111581 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DAP3 Gene migrated from ENSG00000132676 to ENSG00000132676 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B5 Gene migrated from ENSG00000145191 to ENSG00000145191 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B4 Gene migrated from ENSG00000115211 to ENSG00000115211 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GGPS1 Gene migrated from ENSG00000152904 to ENSG00000152904 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HROB Gene symbol changed from C17orf53 to HROB during gene set migration (ENSG00000125319 -> ENSG00000125319)
Infertility and Recurrent Pregnancy Loss v2.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP2L Gene migrated from ENSG00000153157 to ENSG00000153157 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TAC3 Gene migrated from ENSG00000166863 to ENSG00000166863 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TACR3 Gene migrated from ENSG00000169836 to ENSG00000169836 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RNF216 Gene migrated from ENSG00000011275 to ENSG00000011275 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSIP2 Gene migrated from ENSG00000188738 to ENSG00000188738 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DMRT1 Gene migrated from ENSG00000137090 to ENSG00000137090 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH3 Gene migrated from ENSG00000158486 to ENSG00000158486 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CEP112 Gene migrated from ENSG00000154240 to ENSG00000154240 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX15 Gene migrated from ENSG00000133863 to ENSG00000133863 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH8 Gene migrated from ENSG00000124721 to ENSG00000124721 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TFDP3 Gene migrated from ENSG00000183434 to ENSG00000183434 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.180
Cardiac conduction disease v2.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Cardiac conduction disease v2.0 MRC2 Gene migrated from ENSG00000011028 to ENSG00000011028 (gene set migration)
Cardiac conduction disease v2.0 GNB2 Gene migrated from ENSG00000172354 to ENSG00000172354 (gene set migration)
Cardiac conduction disease v2.0 TRPM4 Gene migrated from ENSG00000130529 to ENSG00000130529 (gene set migration)
Cardiac conduction disease v2.0 GJA5 Gene migrated from ENSG00000265107 to ENSG00000265107 (gene set migration)
Cardiac conduction disease v2.0 CLCA2 Gene migrated from ENSG00000137975 to ENSG00000137975 (gene set migration)
Cardiac conduction disease v2.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Cardiac conduction disease v2.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Cardiac conduction disease v2.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Cardiac conduction disease v2.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Cardiac conduction disease v2.0 TNNI3K Gene migrated from ENSG00000116783 to ENSG00000116783 (gene set migration)
Cardiac conduction disease v2.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Cardiac conduction disease v2.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Cardiac conduction disease v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Cardiac conduction disease v2.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Cardiac conduction disease v2.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Cardiac conduction disease v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Cardiac conduction disease v2.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Cardiac conduction disease v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Cardiac conduction disease v2.0 POPDC2 Gene migrated from ENSG00000121577 to ENSG00000121577 (gene set migration)
Cardiac conduction disease v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
Autoimmune Lymphoproliferative Syndrome v2.0 CASP10 Gene migrated from ENSG00000003400 to ENSG00000003400 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 RASGRP1 Gene migrated from ENSG00000172575 to ENSG00000172575 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3CD Gene migrated from ENSG00000171608 to ENSG00000171608 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB1 Gene migrated from ENSG00000109320 to ENSG00000109320 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 MAGT1 Gene migrated from ENSG00000102158 to ENSG00000102158 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ITK Gene migrated from ENSG00000113263 to ENSG00000113263 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FASLG Gene migrated from ENSG00000117560 to ENSG00000117560 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FADD Gene migrated from ENSG00000168040 to ENSG00000168040 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CASP8 Gene migrated from ENSG00000064012 to ENSG00000064012 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FAS Gene migrated from ENSG00000026103 to ENSG00000026103 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB2 Gene migrated from ENSG00000077150 to ENSG00000077150 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3R1 Gene migrated from ENSG00000145675 to ENSG00000145675 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PRKCD Gene migrated from ENSG00000163932 to ENSG00000163932 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CTLA4 Gene migrated from ENSG00000163599 to ENSG00000163599 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NRAS Gene migrated from ENSG00000213281 to ENSG00000213281 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 IKZF1 Gene migrated from ENSG00000185811 to ENSG00000185811 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Breast Cancer v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Breast Cancer v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Breast Cancer v2.0 XRCC2 Gene migrated from ENSG00000196584 to ENSG00000196584 (gene set migration)
Breast Cancer v2.0 SLX4 Gene migrated from ENSG00000188827 to ENSG00000188827 (gene set migration)
Breast Cancer v2.0 RINT1 Gene migrated from ENSG00000135249 to ENSG00000135249 (gene set migration)
Breast Cancer v2.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Breast Cancer v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Breast Cancer v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Breast Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Breast Cancer v2.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Breast Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Breast Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Breast Cancer v2.0 GEN1 Gene migrated from ENSG00000178295 to ENSG00000178295 (gene set migration)
Breast Cancer v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Breast Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Breast Cancer v2.0 RECQL Gene migrated from ENSG00000004700 to ENSG00000004700 (gene set migration)
Breast Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Breast Cancer v2.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
Breast Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Breast Cancer v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Breast Cancer v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Breast Cancer v2.0 RAD51D Gene migrated from ENSG00000185379 to ENSG00000185379 (gene set migration)
Breast Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Breast Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Breast Cancer v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Breast Cancer v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Breast Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Breast Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Breast Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Breast Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Breast Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.19
Ovarian Cancer v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Ovarian Cancer v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Ovarian Cancer v2.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Ovarian Cancer v2.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Ovarian Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Ovarian Cancer v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Ovarian Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Ovarian Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Ovarian Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Ovarian Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Ovarian Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Ovarian Cancer v2.0 RAD51D Gene migrated from ENSG00000185379 to ENSG00000185379 (gene set migration)
Ovarian Cancer v2.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
Ovarian Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Ovarian Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Ovarian Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Ovarian Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Ovarian Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
Endometrial Cancer v2.0 POLD1 Gene migrated from ENSG00000062822 to ENSG00000062822 (gene set migration)
Endometrial Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Endometrial Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Endometrial Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Endometrial Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Endometrial Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Endometrial Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Endometrial Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Endometrial Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Endometrial Cancer v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Endometrial Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Prostate Cancer v2.0 HOXB13 Gene migrated from ENSG00000159184 to ENSG00000159184 (gene set migration)
Prostate Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Prostate Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Prostate Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Prostate Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Prostate Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Prostate Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Prostate Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Prostate Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Prostate Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Prostate Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Prostate Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Prostate Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Colorectal Cancer and Polyposis v2.0 SEMA4A Gene migrated from ENSG00000196189 to ENSG00000196189 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PMS1 Gene migrated from ENSG00000064933 to ENSG00000064933 (gene set migration)
Colorectal Cancer and Polyposis v2.0 EXO1 Gene migrated from ENSG00000174371 to ENSG00000174371 (gene set migration)
Colorectal Cancer and Polyposis v2.0 NTHL1 Gene migrated from ENSG00000065057 to ENSG00000065057 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Colorectal Cancer and Polyposis v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Colorectal Cancer and Polyposis v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Colorectal Cancer and Polyposis v2.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Colorectal Cancer and Polyposis v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Colorectal Cancer and Polyposis v2.0 POLD1 Gene migrated from ENSG00000062822 to ENSG00000062822 (gene set migration)
Colorectal Cancer and Polyposis v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Colorectal Cancer and Polyposis v2.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Colorectal Cancer and Polyposis v2.0 AXIN2 Gene migrated from ENSG00000168646 to ENSG00000168646 (gene set migration)
Colorectal Cancer and Polyposis v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MBD4 Gene migrated from ENSG00000129071 to ENSG00000129071 (gene set migration)
Colorectal Cancer and Polyposis v2.0 RNF43 Gene migrated from ENSG00000108375 to ENSG00000108375 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH3 Gene migrated from ENSG00000113318 to ENSG00000113318 (gene set migration)
Colorectal Cancer and Polyposis v2.0 GREM1 Gene migrated from ENSG00000166923 to ENSG00000166923 (gene set migration)
Colorectal Cancer and Polyposis v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.5
Pancreatic Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Pancreatic Cancer v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Pancreatic Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Pancreatic Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Pancreatic Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Pancreatic Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Pancreatic Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Pancreatic Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Pancreatic Cancer v2.0 CDKN2A Gene migrated from ENSG00000147889 to ENSG00000147889 (gene set migration)
Pancreatic Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Pancreatic Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Pancreatic Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Pancreatic Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Gastrointestinal Stromal Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 PDGFRA Gene migrated from ENSG00000134853 to ENSG00000134853 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.0
Diffuse Gastric Cancer v2.0 CTNNA1 Gene migrated from ENSG00000044115 to ENSG00000044115 (gene set migration)
Diffuse Gastric Cancer v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Diffuse Gastric Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Kidney Cancer v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Kidney Cancer v2.0 PBRM1 Gene migrated from ENSG00000163939 to ENSG00000163939 (gene set migration)
Kidney Cancer v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Kidney Cancer v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Kidney Cancer v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Kidney Cancer v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Kidney Cancer v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Kidney Cancer v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Kidney Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Kidney Cancer v2.0 MET Gene migrated from ENSG00000105976 to ENSG00000105976 (gene set migration)
Kidney Cancer v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Kidney Cancer v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Kidney Cancer v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Kidney Cancer v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Kidney Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Wilms Tumour v2.0 CTCF Gene migrated from ENSG00000102974 to ENSG00000102974 (gene set migration)
Wilms Tumour v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Wilms Tumour v2.0 ASXL1 Gene migrated from ENSG00000171456 to ENSG00000171456 (gene set migration)
Wilms Tumour v2.0 AMER1 Gene migrated from ENSG00000184675 to ENSG00000184675 (gene set migration)
Wilms Tumour v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Wilms Tumour v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Wilms Tumour v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Wilms Tumour v2.0 FBXW7 Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration)
Wilms Tumour v2.0 NYNRIN Gene migrated from ENSG00000205978 to ENSG00000205978 (gene set migration)
Wilms Tumour v2.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Wilms Tumour v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Wilms Tumour v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Wilms Tumour v2.0 CTR9 Gene migrated from ENSG00000198730 to ENSG00000198730 (gene set migration)
Wilms Tumour v2.0 REST Gene migrated from ENSG00000084093 to ENSG00000084093 (gene set migration)
Wilms Tumour v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Wilms Tumour v2.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Wilms Tumour v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Wilms Tumour v2.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Wilms Tumour v2.0 DIS3L2 Gene migrated from ENSG00000144535 to ENSG00000144535 (gene set migration)
Wilms Tumour v2.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Wilms Tumour v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Wilms Tumour v2.0 TRIM28 Gene migrated from ENSG00000130726 to ENSG00000130726 (gene set migration)
Wilms Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Paraganglioma_phaeochromocytoma v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SLC25A11 Gene migrated from ENSG00000108528 to ENSG00000108528 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 EPAS1 Gene migrated from ENSG00000116016 to ENSG00000116016 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 EGLN1 Gene migrated from ENSG00000135766 to ENSG00000135766 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 DLST Gene migrated from ENSG00000119689 to ENSG00000119689 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 TMEM127 Gene migrated from ENSG00000135956 to ENSG00000135956 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MAX Gene migrated from ENSG00000125952 to ENSG00000125952 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Pituitary Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Pituitary Tumour v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Pituitary Tumour v2.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Pituitary Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Pituitary Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Pituitary Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Pituitary Tumour v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Pituitary Tumour v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Pituitary Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Parathyroid Tumour v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Parathyroid Tumour v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Parathyroid Tumour v2.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Parathyroid Tumour v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Parathyroid Tumour v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Parathyroid Tumour v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Parathyroid Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Thyroid Cancer v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Thyroid Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Thyroid Cancer v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Thyroid Cancer v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Thyroid Cancer v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Thyroid Cancer v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Thyroid Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Neuroblastoma v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Neuroblastoma v2.0 PHOX2B Gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Neuroblastoma v2.0 ALK Gene migrated from ENSG00000171094 to ENSG00000171094 (gene set migration)
Neuroblastoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Basal Cell Cancer v2.0 ARHGAP36 downstream regulatory region Region ARHGAP36 downstream regulatory region migrated (gene set migration)
Basal Cell Cancer v2.0 PTCH2 Gene migrated from ENSG00000117425 to ENSG00000117425 (gene set migration)
Basal Cell Cancer v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Basal Cell Cancer v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Basal Cell Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.3
Sarcoma non-soft tissue v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Sarcoma non-soft tissue v2.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Sarcoma non-soft tissue v2.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Sarcoma non-soft tissue v2.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Sarcoma non-soft tissue v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Sarcoma non-soft tissue v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Sarcoma non-soft tissue v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Sarcoma non-soft tissue v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Sarcoma soft tissue v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Sarcoma soft tissue v2.0 POT1 Gene migrated from ENSG00000128513 to ENSG00000128513 (gene set migration)
Sarcoma soft tissue v2.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Sarcoma soft tissue v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Sarcoma soft tissue v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Sarcoma soft tissue v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Sarcoma soft tissue v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Sarcoma soft tissue v2.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Sarcoma soft tissue v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Sarcoma soft tissue v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Sarcoma soft tissue v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Sarcoma soft tissue v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Sarcoma soft tissue v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Sarcoma soft tissue v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Sarcoma soft tissue v2.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Sarcoma soft tissue v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Sarcoma soft tissue v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Sarcoma soft tissue v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Sarcoma soft tissue v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Schwannoma v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Schwannoma v2.0 DGCR8 Gene migrated from ENSG00000128191 to ENSG00000128191 (gene set migration)
Schwannoma v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Schwannoma v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Schwannoma v2.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Schwannoma v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Schwannoma v2.0 LZTR1 Gene migrated from ENSG00000099949 to ENSG00000099949 (gene set migration)
Schwannoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Meningioma v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Meningioma v2.0 SMARCE1 Gene migrated from ENSG00000073584 to ENSG00000073584 (gene set migration)
Meningioma v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Meningioma v2.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Meningioma v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Meningioma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Spontaneous coronary artery dissection v1.0 PTGIR Gene migrated from ENSG00000160013 to ENSG00000160013 (gene set migration)
Spontaneous coronary artery dissection v1.0 TSR1 Gene migrated from ENSG00000167721 to ENSG00000167721 (gene set migration)
Spontaneous coronary artery dissection v1.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Spontaneous coronary artery dissection v1.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (gene set migration)
Spontaneous coronary artery dissection v1.0 DROSHA Gene migrated from ENSG00000113360 to ENSG00000113360 (gene set migration)
Spontaneous coronary artery dissection v1.0 TLN1 Gene migrated from ENSG00000137076 to ENSG00000137076 (gene set migration)
Spontaneous coronary artery dissection v1.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Spontaneous coronary artery dissection v1.0 LOX Gene migrated from ENSG00000113083 to ENSG00000113083 (gene set migration)
Spontaneous coronary artery dissection v1.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Spontaneous coronary artery dissection v1.0 YY1AP1 Gene migrated from ENSG00000163374 to ENSG00000163374 (gene set migration)
Spontaneous coronary artery dissection v1.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL5A1 Gene migrated from ENSG00000130635 to ENSG00000130635 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Spontaneous coronary artery dissection v1.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL4A1 Gene migrated from ENSG00000187498 to ENSG00000187498 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Spontaneous coronary artery dissection v1.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Spontaneous coronary artery dissection v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.58
Nucleotide metabolism disorders v1.0 TPMT Gene migrated from ENSG00000137364 to ENSG00000137364 (gene set migration)
Nucleotide metabolism disorders v1.0 AGXT2 Gene migrated from ENSG00000113492 to ENSG00000113492 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD3 Gene migrated from ENSG00000133805 to ENSG00000133805 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC29A1 Gene migrated from ENSG00000112759 to ENSG00000112759 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD1 Gene migrated from ENSG00000116748 to ENSG00000116748 (gene set migration)
Nucleotide metabolism disorders v1.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Nucleotide metabolism disorders v1.0 OAS1 Gene migrated from ENSG00000089127 to ENSG00000089127 (gene set migration)
Nucleotide metabolism disorders v1.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Nucleotide metabolism disorders v1.0 GUK1 Gene migrated from ENSG00000143774 to ENSG00000143774 (gene set migration)
Nucleotide metabolism disorders v1.0 IFIH1 Gene migrated from ENSG00000115267 to ENSG00000115267 (gene set migration)
Nucleotide metabolism disorders v1.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Nucleotide metabolism disorders v1.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASET2 Gene migrated from ENSG00000026297 to ENSG00000026297 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Nucleotide metabolism disorders v1.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC2A9 Gene migrated from ENSG00000109667 to ENSG00000109667 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC22A12 Gene migrated from ENSG00000197891 to ENSG00000197891 (gene set migration)
Nucleotide metabolism disorders v1.0 ITPA Gene migrated from ENSG00000125877 to ENSG00000125877 (gene set migration)
Nucleotide metabolism disorders v1.0 IMPDH1 Gene migrated from ENSG00000106348 to ENSG00000106348 (gene set migration)
Nucleotide metabolism disorders v1.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Nucleotide metabolism disorders v1.0 AK1 Gene migrated from ENSG00000106992 to ENSG00000106992 (gene set migration)
Nucleotide metabolism disorders v1.0 APRT Gene migrated from ENSG00000198931 to ENSG00000198931 (gene set migration)
Nucleotide metabolism disorders v1.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Nucleotide metabolism disorders v1.0 XDH Gene migrated from ENSG00000158125 to ENSG00000158125 (gene set migration)
Nucleotide metabolism disorders v1.0 PNP Gene migrated from ENSG00000198805 to ENSG00000198805 (gene set migration)
Nucleotide metabolism disorders v1.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Nucleotide metabolism disorders v1.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Nucleotide metabolism disorders v1.0 DPYS Gene migrated from ENSG00000147647 to ENSG00000147647 (gene set migration)
Nucleotide metabolism disorders v1.0 UPB1 Gene migrated from ENSG00000100024 to ENSG00000100024 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Nucleotide metabolism disorders v1.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Nucleotide metabolism disorders v1.0 NT5E Gene migrated from ENSG00000135318 to ENSG00000135318 (gene set migration)
Nucleotide metabolism disorders v1.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Nucleotide metabolism disorders v1.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Nucleotide metabolism disorders v1.0 UNG Gene migrated from ENSG00000076248 to ENSG00000076248 (gene set migration)
Nucleotide metabolism disorders v1.0 AICDA Gene migrated from ENSG00000111732 to ENSG00000111732 (gene set migration)
Nucleotide metabolism disorders v1.0 NT5C3A Gene migrated from ENSG00000122643 to ENSG00000122643 (gene set migration)
Nucleotide metabolism disorders v1.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Nucleotide metabolism disorders v1.0 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Nucleotide metabolism disorders v1.0 DHODH Gene migrated from ENSG00000102967 to ENSG00000102967 (gene set migration)
Nucleotide metabolism disorders v1.0 STING1 Gene symbol changed from TMEM173 to STING1 during gene set migration (ENSG00000184584 -> ENSG00000184584)
Nucleotide metabolism disorders v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.8
Speech apraxia v2.0 CUX1 Gene migrated from ENSG00000257923 to ENSG00000257923 (gene set migration)
Speech apraxia v2.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Speech apraxia v2.0 CAMK2A Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration)
Speech apraxia v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Speech apraxia v2.0 ADGRL1 Gene migrated from ENSG00000072071 to ENSG00000072071 (gene set migration)
Speech apraxia v2.0 FBXW7 Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration)
Speech apraxia v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Speech apraxia v2.0 GNB1 Gene migrated from ENSG00000078369 to ENSG00000078369 (gene set migration)
Speech apraxia v2.0 ZBTB18 Gene migrated from ENSG00000179456 to ENSG00000179456 (gene set migration)
Speech apraxia v2.0 TAOK2 Gene migrated from ENSG00000149930 to ENSG00000149930 (gene set migration)
Speech apraxia v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Speech apraxia v2.0 SPAST Gene migrated from ENSG00000021574 to ENSG00000021574 (gene set migration)
Speech apraxia v2.0 SETD1B Gene migrated from ENSG00000139718 to ENSG00000139718 (gene set migration)
Speech apraxia v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Speech apraxia v2.0 UPF2 Gene migrated from ENSG00000151461 to ENSG00000151461 (gene set migration)
Speech apraxia v2.0 POGZ Gene migrated from ENSG00000143442 to ENSG00000143442 (gene set migration)
Speech apraxia v2.0 ZFHX4 Gene migrated from ENSG00000091656 to ENSG00000091656 (gene set migration)
Speech apraxia v2.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Speech apraxia v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Speech apraxia v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Speech apraxia v2.0 PHF21A Gene migrated from ENSG00000135365 to ENSG00000135365 (gene set migration)
Speech apraxia v2.0 MRTFB Gene symbol changed from MKL2 to MRTFB during gene set migration (ENSG00000186260 -> ENSG00000186260)
Speech apraxia v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Speech apraxia v2.0 RBFOX3 Gene migrated from ENSG00000167281 to ENSG00000167281 (gene set migration)
Speech apraxia v2.0 ERF Gene migrated from ENSG00000105722 to ENSG00000105722 (gene set migration)
Speech apraxia v2.0 ZNF142 Gene migrated from ENSG00000115568 to ENSG00000115568 (gene set migration)
Speech apraxia v2.0 MEIS2 Gene migrated from ENSG00000134138 to ENSG00000134138 (gene set migration)
Speech apraxia v2.0 GNAO1 Gene migrated from ENSG00000087258 to ENSG00000087258 (gene set migration)
Speech apraxia v2.0 DIP2C Gene migrated from ENSG00000151240 to ENSG00000151240 (gene set migration)
Speech apraxia v2.0 WDR5 Gene migrated from ENSG00000196363 to ENSG00000196363 (gene set migration)
Speech apraxia v2.0 TNRC6B Gene migrated from ENSG00000100354 to ENSG00000100354 (gene set migration)
Speech apraxia v2.0 EBF3 Gene migrated from ENSG00000108001 to ENSG00000108001 (gene set migration)
Speech apraxia v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Speech apraxia v2.0 DDX3X Gene migrated from ENSG00000215301 to ENSG00000215301 (gene set migration)
Speech apraxia v2.0 CDK13 Gene migrated from ENSG00000065883 to ENSG00000065883 (gene set migration)
Speech apraxia v2.0 BRPF1 Gene migrated from ENSG00000156983 to ENSG00000156983 (gene set migration)
Speech apraxia v2.0 KAT6A Gene migrated from ENSG00000083168 to ENSG00000083168 (gene set migration)
Speech apraxia v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Speech apraxia v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Speech apraxia v2.0 CAMTA1 Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration)
Speech apraxia v2.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Speech apraxia v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Speech apraxia v2.0 PPP2R5D Gene migrated from ENSG00000112640 to ENSG00000112640 (gene set migration)
Speech apraxia v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Speech apraxia v2.0 SET Gene migrated from ENSG00000119335 to ENSG00000119335 (gene set migration)
Speech apraxia v2.0 GNAI1 Gene migrated from ENSG00000127955 to ENSG00000127955 (gene set migration)
Speech apraxia v2.0 SETD5 Gene migrated from ENSG00000168137 to ENSG00000168137 (gene set migration)
Speech apraxia v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Speech apraxia v2.0 EHMT1 Gene migrated from ENSG00000181090 to ENSG00000181090 (gene set migration)
Speech apraxia v2.0 SLC6A1 Gene migrated from ENSG00000157103 to ENSG00000157103 (gene set migration)
Speech apraxia v2.0 FOXP2 Gene migrated from ENSG00000128573 to ENSG00000128573 (gene set migration)
Speech apraxia v2.0 SMARCA2 Gene migrated from ENSG00000080503 to ENSG00000080503 (gene set migration)
Speech apraxia v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.40
Vitamin metabolism disorders v2.0 EPHX1 Gene migrated from ENSG00000143819 to ENSG00000143819 (gene set migration)
Vitamin metabolism disorders v2.0 THAP11 Gene migrated from ENSG00000168286 to ENSG00000168286 (gene set migration)
Vitamin metabolism disorders v2.0 BCO1 Gene migrated from ENSG00000135697 to ENSG00000135697 (gene set migration)
Vitamin metabolism disorders v2.0 ALDH1A3 Gene migrated from ENSG00000184254 to ENSG00000184254 (gene set migration)
Vitamin metabolism disorders v2.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Vitamin metabolism disorders v2.0 RBP3 Gene migrated from ENSG00000265203 to ENSG00000265203 (gene set migration)
Vitamin metabolism disorders v2.0 TTPA Gene migrated from ENSG00000137561 to ENSG00000137561 (gene set migration)
Vitamin metabolism disorders v2.0 CD320 Gene migrated from ENSG00000167775 to ENSG00000167775 (gene set migration)
Vitamin metabolism disorders v2.0 TCN1 Gene migrated from ENSG00000134827 to ENSG00000134827 (gene set migration)
Vitamin metabolism disorders v2.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Vitamin metabolism disorders v2.0 ZNF143 Gene migrated from ENSG00000166478 to ENSG00000166478 (gene set migration)
Vitamin metabolism disorders v2.0 PRDX1 Gene migrated from ENSG00000117450 to ENSG00000117450 (gene set migration)
Vitamin metabolism disorders v2.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Vitamin metabolism disorders v2.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Vitamin metabolism disorders v2.0 UBIAD1 Gene migrated from ENSG00000120942 to ENSG00000120942 (gene set migration)
Vitamin metabolism disorders v2.0 VKORC1 Gene migrated from ENSG00000167397 to ENSG00000167397 (gene set migration)
Vitamin metabolism disorders v2.0 GGCX Gene migrated from ENSG00000115486 to ENSG00000115486 (gene set migration)
Vitamin metabolism disorders v2.0 CYP24A1 Gene migrated from ENSG00000019186 to ENSG00000019186 (gene set migration)
Vitamin metabolism disorders v2.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Vitamin metabolism disorders v2.0 CYP2R1 Gene migrated from ENSG00000186104 to ENSG00000186104 (gene set migration)
Vitamin metabolism disorders v2.0 CYP27B1 Gene migrated from ENSG00000111012 to ENSG00000111012 (gene set migration)
Vitamin metabolism disorders v2.0 RLBP1 Gene migrated from ENSG00000140522 to ENSG00000140522 (gene set migration)
Vitamin metabolism disorders v2.0 RDH12 Gene migrated from ENSG00000139988 to ENSG00000139988 (gene set migration)
Vitamin metabolism disorders v2.0 RDH5 Gene migrated from ENSG00000135437 to ENSG00000135437 (gene set migration)
Vitamin metabolism disorders v2.0 RPE65 Gene migrated from ENSG00000116745 to ENSG00000116745 (gene set migration)
Vitamin metabolism disorders v2.0 LRAT Gene migrated from ENSG00000121207 to ENSG00000121207 (gene set migration)
Vitamin metabolism disorders v2.0 RBP4 Gene migrated from ENSG00000138207 to ENSG00000138207 (gene set migration)
Vitamin metabolism disorders v2.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Vitamin metabolism disorders v2.0 MCEE Gene migrated from ENSG00000124370 to ENSG00000124370 (gene set migration)
Vitamin metabolism disorders v2.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Vitamin metabolism disorders v2.0 CBLIF Gene symbol changed from GIF to CBLIF during gene set migration (ENSG00000134812 -> ENSG00000134812)
Vitamin metabolism disorders v2.0 CUBN Gene migrated from ENSG00000107611 to ENSG00000107611 (gene set migration)
Vitamin metabolism disorders v2.0 AMN Gene migrated from ENSG00000166126 to ENSG00000166126 (gene set migration)
Vitamin metabolism disorders v2.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Vitamin metabolism disorders v2.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Vitamin metabolism disorders v2.0 ABCD4 Gene migrated from ENSG00000119688 to ENSG00000119688 (gene set migration)
Vitamin metabolism disorders v2.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Vitamin metabolism disorders v2.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Vitamin metabolism disorders v2.0 MTRR Gene migrated from ENSG00000124275 to ENSG00000124275 (gene set migration)
Vitamin metabolism disorders v2.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Vitamin metabolism disorders v2.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Vitamin metabolism disorders v2.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Vitamin metabolism disorders v2.0 COASY Gene migrated from ENSG00000068120 to ENSG00000068120 (gene set migration)
Vitamin metabolism disorders v2.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Vitamin metabolism disorders v2.0 NAXD Gene migrated from ENSG00000213995 to ENSG00000213995 (gene set migration)
Vitamin metabolism disorders v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Vitamin metabolism disorders v2.0 NADK2 Gene migrated from ENSG00000152620 to ENSG00000152620 (gene set migration)
Vitamin metabolism disorders v2.0 NMNAT1 Gene migrated from ENSG00000173614 to ENSG00000173614 (gene set migration)
Vitamin metabolism disorders v2.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Vitamin metabolism disorders v2.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Vitamin metabolism disorders v2.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Vitamin metabolism disorders v2.0 SLC25A32 Gene migrated from ENSG00000164933 to ENSG00000164933 (gene set migration)
Vitamin metabolism disorders v2.0 FLAD1 Gene migrated from ENSG00000160688 to ENSG00000160688 (gene set migration)
Vitamin metabolism disorders v2.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Vitamin metabolism disorders v2.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Vitamin metabolism disorders v2.0 MTHFD1 Gene migrated from ENSG00000100714 to ENSG00000100714 (gene set migration)
Vitamin metabolism disorders v2.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Vitamin metabolism disorders v2.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Vitamin metabolism disorders v2.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Vitamin metabolism disorders v2.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Vitamin metabolism disorders v2.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Vitamin metabolism disorders v2.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Vitamin metabolism disorders v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.7
Prepair 500+ v3.0 GNE Gene migrated from ENSG00000159921 to ENSG00000159921 (gene set migration)
Prepair 500+ v3.0 GPR143 Gene migrated from ENSG00000101850 to ENSG00000101850 (gene set migration)
Prepair 500+ v3.0 CLN3 Gene migrated from ENSG00000188603 to ENSG00000188603 (gene set migration)
Prepair 500+ v3.0 TELO2 Gene migrated from ENSG00000100726 to ENSG00000100726 (gene set migration)
Prepair 500+ v3.0 TCTN3 Gene migrated from ENSG00000119977 to ENSG00000119977 (gene set migration)
Prepair 500+ v3.0 TECPR2 Gene migrated from ENSG00000196663 to ENSG00000196663 (gene set migration)
Prepair 500+ v3.0 TCTN2 Gene migrated from ENSG00000168778 to ENSG00000168778 (gene set migration)
Prepair 500+ v3.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Prepair 500+ v3.0 TCIRG1 Gene migrated from ENSG00000110719 to ENSG00000110719 (gene set migration)
Prepair 500+ v3.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Prepair 500+ v3.0 TBCD Gene migrated from ENSG00000141556 to ENSG00000141556 (gene set migration)
Prepair 500+ v3.0 TBC1D23 Gene migrated from ENSG00000036054 to ENSG00000036054 (gene set migration)
Prepair 500+ v3.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Prepair 500+ v3.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Prepair 500+ v3.0 TAT Gene migrated from ENSG00000198650 to ENSG00000198650 (gene set migration)
Prepair 500+ v3.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Prepair 500+ v3.0 SYN1 Gene migrated from ENSG00000008056 to ENSG00000008056 (gene set migration)
Prepair 500+ v3.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Prepair 500+ v3.0 SUOX Gene migrated from ENSG00000139531 to ENSG00000139531 (gene set migration)
Prepair 500+ v3.0 SUMF1 Gene migrated from ENSG00000144455 to ENSG00000144455 (gene set migration)
Prepair 500+ v3.0 STXBP2 Gene migrated from ENSG00000076944 to ENSG00000076944 (gene set migration)
Prepair 500+ v3.0 STX11 Gene migrated from ENSG00000135604 to ENSG00000135604 (gene set migration)
Prepair 500+ v3.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Prepair 500+ v3.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Prepair 500+ v3.0 SPR Gene migrated from ENSG00000116096 to ENSG00000116096 (gene set migration)
Prepair 500+ v3.0 TMEM138 Gene migrated from ENSG00000149483 to ENSG00000149483 (gene set migration)
Prepair 500+ v3.0 TH Gene migrated from ENSG00000180176 to ENSG00000180176 (gene set migration)
Prepair 500+ v3.0 SPINK5 Gene migrated from ENSG00000133710 to ENSG00000133710 (gene set migration)
Prepair 500+ v3.0 SPG11 Gene migrated from ENSG00000104133 to ENSG00000104133 (gene set migration)
Prepair 500+ v3.0 AFG2A Gene symbol changed from SPATA5 to AFG2A during gene set migration (ENSG00000145375 -> ENSG00000145375)
Prepair 500+ v3.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Prepair 500+ v3.0 SMN1 Gene migrated from ENSG00000172062 to ENSG00000172062 (gene set migration)
Prepair 500+ v3.0 SMARCAL1 Gene migrated from ENSG00000138375 to ENSG00000138375 (gene set migration)
Prepair 500+ v3.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Prepair 500+ v3.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Prepair 500+ v3.0 SLC39A4 Gene migrated from ENSG00000147804 to ENSG00000147804 (gene set migration)
Prepair 500+ v3.0 SLC38A8 Gene migrated from ENSG00000166558 to ENSG00000166558 (gene set migration)
Prepair 500+ v3.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Prepair 500+ v3.0 SLC35A3 Gene migrated from ENSG00000117620 to ENSG00000117620 (gene set migration)
Prepair 500+ v3.0 SLC26A3 Gene migrated from ENSG00000091138 to ENSG00000091138 (gene set migration)
Prepair 500+ v3.0 SLC26A2 Gene migrated from ENSG00000155850 to ENSG00000155850 (gene set migration)
Prepair 500+ v3.0 SLC25A15 Gene migrated from ENSG00000102743 to ENSG00000102743 (gene set migration)
Prepair 500+ v3.0 SLC25A13 Gene migrated from ENSG00000004864 to ENSG00000004864 (gene set migration)
Prepair 500+ v3.0 THOC2 Gene migrated from ENSG00000125676 to ENSG00000125676 (gene set migration)
Prepair 500+ v3.0 SMPD1 Gene migrated from ENSG00000166311 to ENSG00000166311 (gene set migration)
Prepair 500+ v3.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Prepair 500+ v3.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Prepair 500+ v3.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Prepair 500+ v3.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Prepair 500+ v3.0 SLC45A2 Gene migrated from ENSG00000164175 to ENSG00000164175 (gene set migration)
Prepair 500+ v3.0 SLC1A4 Gene migrated from ENSG00000115902 to ENSG00000115902 (gene set migration)
Prepair 500+ v3.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Prepair 500+ v3.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Prepair 500+ v3.0 SKIC2 Gene symbol changed from SKIV2L to SKIC2 during gene set migration (ENSG00000204351 -> ENSG00000204351)
Prepair 500+ v3.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Prepair 500+ v3.0 SH3TC2 Gene migrated from ENSG00000169247 to ENSG00000169247 (gene set migration)
Prepair 500+ v3.0 SGCD Gene migrated from ENSG00000170624 to ENSG00000170624 (gene set migration)
Prepair 500+ v3.0 SGCB Gene migrated from ENSG00000163069 to ENSG00000163069 (gene set migration)
Prepair 500+ v3.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Prepair 500+ v3.0 SERPINH1 Gene migrated from ENSG00000149257 to ENSG00000149257 (gene set migration)
Prepair 500+ v3.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Prepair 500+ v3.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
Prepair 500+ v3.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Prepair 500+ v3.0 SERAC1 Gene migrated from ENSG00000122335 to ENSG00000122335 (gene set migration)
Prepair 500+ v3.0 SEC23B Gene migrated from ENSG00000101310 to ENSG00000101310 (gene set migration)
Prepair 500+ v3.0 SDCCAG8 Gene migrated from ENSG00000054282 to ENSG00000054282 (gene set migration)
Prepair 500+ v3.0 SEPSECS Gene migrated from ENSG00000109618 to ENSG00000109618 (gene set migration)
Prepair 500+ v3.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Prepair 500+ v3.0 SC5D Gene migrated from ENSG00000109929 to ENSG00000109929 (gene set migration)
Prepair 500+ v3.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Prepair 500+ v3.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Prepair 500+ v3.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
Prepair 500+ v3.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Prepair 500+ v3.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Prepair 500+ v3.0 RPGRIP1L Gene migrated from ENSG00000103494 to ENSG00000103494 (gene set migration)
Prepair 500+ v3.0 SLC12A6 Gene migrated from ENSG00000140199 to ENSG00000140199 (gene set migration)
Prepair 500+ v3.0 SLC6A5 Gene migrated from ENSG00000165970 to ENSG00000165970 (gene set migration)
Prepair 500+ v3.0 SLC17A5 Gene migrated from ENSG00000119899 to ENSG00000119899 (gene set migration)
Prepair 500+ v3.0 RPE65 Gene migrated from ENSG00000116745 to ENSG00000116745 (gene set migration)
Prepair 500+ v3.0 RP2 Gene migrated from ENSG00000102218 to ENSG00000102218 (gene set migration)
Prepair 500+ v3.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Prepair 500+ v3.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Prepair 500+ v3.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Prepair 500+ v3.0 RDH12 Gene migrated from ENSG00000139988 to ENSG00000139988 (gene set migration)
Prepair 500+ v3.0 RBBP8 Gene migrated from ENSG00000101773 to ENSG00000101773 (gene set migration)
Prepair 500+ v3.0 RARS2 Gene migrated from ENSG00000146282 to ENSG00000146282 (gene set migration)
Prepair 500+ v3.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Prepair 500+ v3.0 RAPSN Gene migrated from ENSG00000165917 to ENSG00000165917 (gene set migration)
Prepair 500+ v3.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Prepair 500+ v3.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Prepair 500+ v3.0 RAG2 Gene migrated from ENSG00000175097 to ENSG00000175097 (gene set migration)
Prepair 500+ v3.0 RAG1 Gene migrated from ENSG00000166349 to ENSG00000166349 (gene set migration)
Prepair 500+ v3.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Prepair 500+ v3.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Prepair 500+ v3.0 RAB23 Gene migrated from ENSG00000112210 to ENSG00000112210 (gene set migration)
Prepair 500+ v3.0 RAB18 Gene migrated from ENSG00000099246 to ENSG00000099246 (gene set migration)
Prepair 500+ v3.0 TMEM231 Gene migrated from ENSG00000205084 to ENSG00000205084 (gene set migration)
Prepair 500+ v3.0 TMEM67 Gene migrated from ENSG00000164953 to ENSG00000164953 (gene set migration)
Prepair 500+ v3.0 TMTC3 Gene migrated from ENSG00000139324 to ENSG00000139324 (gene set migration)
Prepair 500+ v3.0 TOE1 Gene migrated from ENSG00000132773 to ENSG00000132773 (gene set migration)
Prepair 500+ v3.0 TRDN Gene migrated from ENSG00000186439 to ENSG00000186439 (gene set migration)
Prepair 500+ v3.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Prepair 500+ v3.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Prepair 500+ v3.0 TRMU Gene migrated from ENSG00000100416 to ENSG00000100416 (gene set migration)
Prepair 500+ v3.0 TRPM6 Gene migrated from ENSG00000119121 to ENSG00000119121 (gene set migration)
Prepair 500+ v3.0 TSEN2 Gene migrated from ENSG00000154743 to ENSG00000154743 (gene set migration)
Prepair 500+ v3.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Prepair 500+ v3.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Prepair 500+ v3.0 SKIC3 Gene symbol changed from TTC37 to SKIC3 during gene set migration (ENSG00000198677 -> ENSG00000198677)
Prepair 500+ v3.0 TTC7A Gene migrated from ENSG00000068724 to ENSG00000068724 (gene set migration)
Prepair 500+ v3.0 TTPA Gene migrated from ENSG00000137561 to ENSG00000137561 (gene set migration)
Prepair 500+ v3.0 TTC8 Gene migrated from ENSG00000165533 to ENSG00000165533 (gene set migration)
Prepair 500+ v3.0 TULP1 Gene migrated from ENSG00000112041 to ENSG00000112041 (gene set migration)
Prepair 500+ v3.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Prepair 500+ v3.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Prepair 500+ v3.0 TYR Gene migrated from ENSG00000077498 to ENSG00000077498 (gene set migration)
Prepair 500+ v3.0 TYRP1 Gene migrated from ENSG00000107165 to ENSG00000107165 (gene set migration)
Prepair 500+ v3.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Prepair 500+ v3.0 UBA5 Gene migrated from ENSG00000081307 to ENSG00000081307 (gene set migration)
Prepair 500+ v3.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Prepair 500+ v3.0 USH1C Gene migrated from ENSG00000006611 to ENSG00000006611 (gene set migration)
Prepair 500+ v3.0 USH2A Gene migrated from ENSG00000042781 to ENSG00000042781 (gene set migration)
Prepair 500+ v3.0 VPS45 Gene migrated from ENSG00000136631 to ENSG00000136631 (gene set migration)
Prepair 500+ v3.0 VPS13B Gene migrated from ENSG00000132549 to ENSG00000132549 (gene set migration)
Prepair 500+ v3.0 VPS53 Gene migrated from ENSG00000141252 to ENSG00000141252 (gene set migration)
Prepair 500+ v3.0 VSX2 Gene migrated from ENSG00000119614 to ENSG00000119614 (gene set migration)
Prepair 500+ v3.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
Prepair 500+ v3.0 DYNC2I2 Gene symbol changed from WDR34 to DYNC2I2 during gene set migration (ENSG00000119333 -> ENSG00000119333)
Prepair 500+ v3.0 WDR81 Gene migrated from ENSG00000167716 to ENSG00000167716 (gene set migration)
Prepair 500+ v3.0 WHRN Gene migrated from ENSG00000095397 to ENSG00000095397 (gene set migration)
Prepair 500+ v3.0 WWOX Gene migrated from ENSG00000186153 to ENSG00000186153 (gene set migration)
Prepair 500+ v3.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Prepair 500+ v3.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Prepair 500+ v3.0 QDPR Gene migrated from ENSG00000151552 to ENSG00000151552 (gene set migration)
Prepair 500+ v3.0 PUS1 Gene migrated from ENSG00000177192 to ENSG00000177192 (gene set migration)
Prepair 500+ v3.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Prepair 500+ v3.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Prepair 500+ v3.0 PRF1 Gene migrated from ENSG00000180644 to ENSG00000180644 (gene set migration)
Prepair 500+ v3.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Prepair 500+ v3.0 PRDM5 Gene migrated from ENSG00000138738 to ENSG00000138738 (gene set migration)
Prepair 500+ v3.0 PQBP1 Gene migrated from ENSG00000102103 to ENSG00000102103 (gene set migration)
Prepair 500+ v3.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Prepair 500+ v3.0 POU1F1 Gene migrated from ENSG00000064835 to ENSG00000064835 (gene set migration)
Prepair 500+ v3.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Prepair 500+ v3.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Prepair 500+ v3.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Prepair 500+ v3.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Prepair 500+ v3.0 POLR1C Gene migrated from ENSG00000171453 to ENSG00000171453 (gene set migration)
Prepair 500+ v3.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Prepair 500+ v3.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Prepair 500+ v3.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Prepair 500+ v3.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Prepair 500+ v3.0 PLOD1 Gene migrated from ENSG00000083444 to ENSG00000083444 (gene set migration)
Prepair 500+ v3.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Prepair 500+ v3.0 PKHD1 Gene migrated from ENSG00000170927 to ENSG00000170927 (gene set migration)
Prepair 500+ v3.0 PIGT Gene migrated from ENSG00000124155 to ENSG00000124155 (gene set migration)
Prepair 500+ v3.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Prepair 500+ v3.0 PIGN Gene migrated from ENSG00000197563 to ENSG00000197563 (gene set migration)
Prepair 500+ v3.0 PIBF1 Gene migrated from ENSG00000083535 to ENSG00000083535 (gene set migration)
Prepair 500+ v3.0 PHGDH Gene migrated from ENSG00000092621 to ENSG00000092621 (gene set migration)
Prepair 500+ v3.0 PHYH Gene migrated from ENSG00000107537 to ENSG00000107537 (gene set migration)
Prepair 500+ v3.0 PHF8 Gene migrated from ENSG00000172943 to ENSG00000172943 (gene set migration)
Prepair 500+ v3.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Prepair 500+ v3.0 PGM1 Gene migrated from ENSG00000079739 to ENSG00000079739 (gene set migration)
Prepair 500+ v3.0 PGK1 Gene migrated from ENSG00000102144 to ENSG00000102144 (gene set migration)
Prepair 500+ v3.0 PGAP2 Gene migrated from ENSG00000148985 to ENSG00000148985 (gene set migration)
Prepair 500+ v3.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Prepair 500+ v3.0 PIGG Gene migrated from ENSG00000174227 to ENSG00000174227 (gene set migration)
Prepair 500+ v3.0 PFKM Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)
Prepair 500+ v3.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Prepair 500+ v3.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Prepair 500+ v3.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Prepair 500+ v3.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Prepair 500+ v3.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Prepair 500+ v3.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Prepair 500+ v3.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Prepair 500+ v3.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Prepair 500+ v3.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Prepair 500+ v3.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Prepair 500+ v3.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Prepair 500+ v3.0 PEPD Gene migrated from ENSG00000124299 to ENSG00000124299 (gene set migration)
Prepair 500+ v3.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Prepair 500+ v3.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Prepair 500+ v3.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Prepair 500+ v3.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Prepair 500+ v3.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Prepair 500+ v3.0 P3H1 Gene migrated from ENSG00000117385 to ENSG00000117385 (gene set migration)
Prepair 500+ v3.0 OTC Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration)
Prepair 500+ v3.0 OPHN1 Gene migrated from ENSG00000079482 to ENSG00000079482 (gene set migration)
Prepair 500+ v3.0 OPA1 Gene migrated from ENSG00000198836 to ENSG00000198836 (gene set migration)
Prepair 500+ v3.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Prepair 500+ v3.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Prepair 500+ v3.0 NTRK1 Gene migrated from ENSG00000198400 to ENSG00000198400 (gene set migration)
Prepair 500+ v3.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Prepair 500+ v3.0 NPHS1 Gene migrated from ENSG00000161270 to ENSG00000161270 (gene set migration)
Prepair 500+ v3.0 NPHS2 Gene migrated from ENSG00000116218 to ENSG00000116218 (gene set migration)
Prepair 500+ v3.0 NPHP3 Gene migrated from ENSG00000113971 to ENSG00000113971 (gene set migration)
Prepair 500+ v3.0 NPHP1 Gene migrated from ENSG00000144061 to ENSG00000144061 (gene set migration)
Prepair 500+ v3.0 NPC2 Gene migrated from ENSG00000119655 to ENSG00000119655 (gene set migration)
Prepair 500+ v3.0 NPC1 Gene migrated from ENSG00000141458 to ENSG00000141458 (gene set migration)
Prepair 500+ v3.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Prepair 500+ v3.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Prepair 500+ v3.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Prepair 500+ v3.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Prepair 500+ v3.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Prepair 500+ v3.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Prepair 500+ v3.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Prepair 500+ v3.0 PCDH19 Gene migrated from ENSG00000165194 to ENSG00000165194 (gene set migration)
Prepair 500+ v3.0 PCDH15 Gene migrated from ENSG00000150275 to ENSG00000150275 (gene set migration)
Prepair 500+ v3.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Prepair 500+ v3.0 OPA3 Gene migrated from ENSG00000125741 to ENSG00000125741 (gene set migration)
Prepair 500+ v3.0 NDUFS6 Gene migrated from ENSG00000145494 to ENSG00000145494 (gene set migration)
Prepair 500+ v3.0 NEB Gene migrated from ENSG00000183091 to ENSG00000183091 (gene set migration)
Prepair 500+ v3.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Prepair 500+ v3.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Prepair 500+ v3.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Prepair 500+ v3.0 NDRG1 Gene migrated from ENSG00000104419 to ENSG00000104419 (gene set migration)
Prepair 500+ v3.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Prepair 500+ v3.0 NDE1 Gene migrated from ENSG00000072864 to ENSG00000072864 (gene set migration)
Prepair 500+ v3.0 NCF2 Gene migrated from ENSG00000116701 to ENSG00000116701 (gene set migration)
Prepair 500+ v3.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Prepair 500+ v3.0 NARS2 Gene migrated from ENSG00000137513 to ENSG00000137513 (gene set migration)
Prepair 500+ v3.0 NAGS Gene migrated from ENSG00000161653 to ENSG00000161653 (gene set migration)
Prepair 500+ v3.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Prepair 500+ v3.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Prepair 500+ v3.0 MYO7A Gene migrated from ENSG00000137474 to ENSG00000137474 (gene set migration)
Prepair 500+ v3.0 MYO5B Gene migrated from ENSG00000167306 to ENSG00000167306 (gene set migration)
Prepair 500+ v3.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
Prepair 500+ v3.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Prepair 500+ v3.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Prepair 500+ v3.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Prepair 500+ v3.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
Prepair 500+ v3.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Prepair 500+ v3.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Prepair 500+ v3.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Prepair 500+ v3.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Prepair 500+ v3.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Prepair 500+ v3.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Prepair 500+ v3.0 NALCN Gene migrated from ENSG00000102452 to ENSG00000102452 (gene set migration)
Prepair 500+ v3.0 MTRR Gene migrated from ENSG00000124275 to ENSG00000124275 (gene set migration)
Prepair 500+ v3.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Prepair 500+ v3.0 MTMR2 Gene migrated from ENSG00000087053 to ENSG00000087053 (gene set migration)
Prepair 500+ v3.0 MTM1 Gene migrated from ENSG00000171100 to ENSG00000171100 (gene set migration)
Prepair 500+ v3.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Prepair 500+ v3.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Prepair 500+ v3.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Prepair 500+ v3.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Prepair 500+ v3.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Prepair 500+ v3.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Prepair 500+ v3.0 MID1 Gene migrated from ENSG00000101871 to ENSG00000101871 (gene set migration)
Prepair 500+ v3.0 MFSD8 Gene migrated from ENSG00000164073 to ENSG00000164073 (gene set migration)
Prepair 500+ v3.0 METTL23 Gene migrated from ENSG00000181038 to ENSG00000181038 (gene set migration)
Prepair 500+ v3.0 MESP2 Gene migrated from ENSG00000188095 to ENSG00000188095 (gene set migration)
Prepair 500+ v3.0 MED17 Gene migrated from ENSG00000042429 to ENSG00000042429 (gene set migration)
Prepair 500+ v3.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Prepair 500+ v3.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Prepair 500+ v3.0 MCPH1 Gene migrated from ENSG00000147316 to ENSG00000147316 (gene set migration)
Prepair 500+ v3.0 MCOLN1 Gene migrated from ENSG00000090674 to ENSG00000090674 (gene set migration)
Prepair 500+ v3.0 MASP1 Gene migrated from ENSG00000127241 to ENSG00000127241 (gene set migration)
Prepair 500+ v3.0 MANBA Gene migrated from ENSG00000109323 to ENSG00000109323 (gene set migration)
Prepair 500+ v3.0 ZDHHC9 Gene migrated from ENSG00000188706 to ENSG00000188706 (gene set migration)
Prepair 500+ v3.0 ZFYVE26 Gene migrated from ENSG00000072121 to ENSG00000072121 (gene set migration)
Prepair 500+ v3.0 ZNF711 Gene migrated from ENSG00000147180 to ENSG00000147180 (gene set migration)
Prepair 500+ v3.0 LZTFL1 Gene migrated from ENSG00000163818 to ENSG00000163818 (gene set migration)
Prepair 500+ v3.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Prepair 500+ v3.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Prepair 500+ v3.0 LRP2 Gene migrated from ENSG00000081479 to ENSG00000081479 (gene set migration)
Prepair 500+ v3.0 LRAT Gene migrated from ENSG00000121207 to ENSG00000121207 (gene set migration)
Prepair 500+ v3.0 LMBRD1 Gene migrated from ENSG00000168216 to ENSG00000168216 (gene set migration)
Prepair 500+ v3.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Prepair 500+ v3.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Prepair 500+ v3.0 USH1G Gene migrated from ENSG00000182040 to ENSG00000182040 (gene set migration)
Prepair 500+ v3.0 CCN6 Gene symbol changed from WISP3 to CCN6 during gene set migration (ENSG00000112761 -> ENSG00000112761)
Prepair 500+ v3.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Prepair 500+ v3.0 MTTP Gene migrated from ENSG00000138823 to ENSG00000138823 (gene set migration)
Prepair 500+ v3.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Prepair 500+ v3.0 LPL Gene migrated from ENSG00000175445 to ENSG00000175445 (gene set migration)
Prepair 500+ v3.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
Prepair 500+ v3.0 LIFR Gene migrated from ENSG00000113594 to ENSG00000113594 (gene set migration)
Prepair 500+ v3.0 LCA5 Gene migrated from ENSG00000135338 to ENSG00000135338 (gene set migration)
Prepair 500+ v3.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Prepair 500+ v3.0 LAMC2 Gene migrated from ENSG00000058085 to ENSG00000058085 (gene set migration)
Prepair 500+ v3.0 LAMB3 Gene migrated from ENSG00000196878 to ENSG00000196878 (gene set migration)
Prepair 500+ v3.0 LAMB2 Gene migrated from ENSG00000172037 to ENSG00000172037 (gene set migration)
Prepair 500+ v3.0 LAMB1 Gene migrated from ENSG00000091136 to ENSG00000091136 (gene set migration)
Prepair 500+ v3.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Prepair 500+ v3.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Prepair 500+ v3.0 LDLR Gene migrated from ENSG00000130164 to ENSG00000130164 (gene set migration)
Prepair 500+ v3.0 LARS1 Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706)
Prepair 500+ v3.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Prepair 500+ v3.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Prepair 500+ v3.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Prepair 500+ v3.0 L1CAM Gene migrated from ENSG00000198910 to ENSG00000198910 (gene set migration)
Prepair 500+ v3.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Prepair 500+ v3.0 KIF7 Gene migrated from ENSG00000166813 to ENSG00000166813 (gene set migration)
Prepair 500+ v3.0 KIF1A Gene migrated from ENSG00000130294 to ENSG00000130294 (gene set migration)
Prepair 500+ v3.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Prepair 500+ v3.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Prepair 500+ v3.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Prepair 500+ v3.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Prepair 500+ v3.0 KATNB1 Gene migrated from ENSG00000140854 to ENSG00000140854 (gene set migration)
Prepair 500+ v3.0 JAK3 Gene migrated from ENSG00000105639 to ENSG00000105639 (gene set migration)
Prepair 500+ v3.0 ITPR1 Gene migrated from ENSG00000150995 to ENSG00000150995 (gene set migration)
Prepair 500+ v3.0 IVD Gene migrated from ENSG00000128928 to ENSG00000128928 (gene set migration)
Prepair 500+ v3.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Prepair 500+ v3.0 ITGA6 Gene migrated from ENSG00000091409 to ENSG00000091409 (gene set migration)
Prepair 500+ v3.0 INVS Gene migrated from ENSG00000119509 to ENSG00000119509 (gene set migration)
Prepair 500+ v3.0 INPP5E Gene migrated from ENSG00000148384 to ENSG00000148384 (gene set migration)
Prepair 500+ v3.0 IQSEC2 Gene migrated from ENSG00000124313 to ENSG00000124313 (gene set migration)
Prepair 500+ v3.0 IL2RG Gene migrated from ENSG00000147168 to ENSG00000147168 (gene set migration)
Prepair 500+ v3.0 IGHMBP2 Gene migrated from ENSG00000132740 to ENSG00000132740 (gene set migration)
Prepair 500+ v3.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Prepair 500+ v3.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Prepair 500+ v3.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Prepair 500+ v3.0 HUWE1 Gene migrated from ENSG00000086758 to ENSG00000086758 (gene set migration)
Prepair 500+ v3.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Prepair 500+ v3.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Prepair 500+ v3.0 IL1RAPL1 Gene migrated from ENSG00000169306 to ENSG00000169306 (gene set migration)
Prepair 500+ v3.0 IKBKB Gene migrated from ENSG00000104365 to ENSG00000104365 (gene set migration)
Prepair 500+ v3.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Prepair 500+ v3.0 HPS6 Gene migrated from ENSG00000166189 to ENSG00000166189 (gene set migration)
Prepair 500+ v3.0 HPS5 Gene migrated from ENSG00000110756 to ENSG00000110756 (gene set migration)
Prepair 500+ v3.0 HPS4 Gene migrated from ENSG00000100099 to ENSG00000100099 (gene set migration)
Prepair 500+ v3.0 HPS3 Gene migrated from ENSG00000163755 to ENSG00000163755 (gene set migration)
Prepair 500+ v3.0 HPS1 Gene migrated from ENSG00000107521 to ENSG00000107521 (gene set migration)
Prepair 500+ v3.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Prepair 500+ v3.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Prepair 500+ v3.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Prepair 500+ v3.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Prepair 500+ v3.0 HBB Gene migrated from ENSG00000244734 to ENSG00000244734 (gene set migration)
Prepair 500+ v3.0 HAX1 Gene migrated from ENSG00000143575 to ENSG00000143575 (gene set migration)
Prepair 500+ v3.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Prepair 500+ v3.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Prepair 500+ v3.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Prepair 500+ v3.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Prepair 500+ v3.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Prepair 500+ v3.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Prepair 500+ v3.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (gene set migration)
Prepair 500+ v3.0 GNPTG Gene migrated from ENSG00000090581 to ENSG00000090581 (gene set migration)
Prepair 500+ v3.0 GNS Gene migrated from ENSG00000135677 to ENSG00000135677 (gene set migration)
Prepair 500+ v3.0 GNPAT Gene migrated from ENSG00000116906 to ENSG00000116906 (gene set migration)
Prepair 500+ v3.0 GNB5 Gene migrated from ENSG00000069966 to ENSG00000069966 (gene set migration)
Prepair 500+ v3.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Prepair 500+ v3.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Prepair 500+ v3.0 GJB1 Gene migrated from ENSG00000169562 to ENSG00000169562 (gene set migration)
Prepair 500+ v3.0 GHR Gene migrated from ENSG00000112964 to ENSG00000112964 (gene set migration)
Prepair 500+ v3.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Prepair 500+ v3.0 GDF5 Gene migrated from ENSG00000125965 to ENSG00000125965 (gene set migration)
Prepair 500+ v3.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Prepair 500+ v3.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Prepair 500+ v3.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Prepair 500+ v3.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Prepair 500+ v3.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Prepair 500+ v3.0 GALNS Gene migrated from ENSG00000141012 to ENSG00000141012 (gene set migration)
Prepair 500+ v3.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Prepair 500+ v3.0 GAA Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration)
Prepair 500+ v3.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
Prepair 500+ v3.0 G6PC1 Gene symbol changed from G6PC to G6PC1 during gene set migration (ENSG00000131482 -> ENSG00000131482)
Prepair 500+ v3.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Prepair 500+ v3.0 FTSJ1 Gene migrated from ENSG00000068438 to ENSG00000068438 (gene set migration)
Prepair 500+ v3.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Prepair 500+ v3.0 FMR1 Gene migrated from ENSG00000102081 to ENSG00000102081 (gene set migration)
Prepair 500+ v3.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Prepair 500+ v3.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Prepair 500+ v3.0 FKBP10 Gene migrated from ENSG00000141756 to ENSG00000141756 (gene set migration)
Prepair 500+ v3.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Prepair 500+ v3.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Prepair 500+ v3.0 GCH1 Gene migrated from ENSG00000131979 to ENSG00000131979 (gene set migration)
Prepair 500+ v3.0 FOXN1 Gene migrated from ENSG00000109101 to ENSG00000109101 (gene set migration)
Prepair 500+ v3.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Prepair 500+ v3.0 FBP1 Gene migrated from ENSG00000165140 to ENSG00000165140 (gene set migration)
Prepair 500+ v3.0 FAT4 Gene migrated from ENSG00000196159 to ENSG00000196159 (gene set migration)
Prepair 500+ v3.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Prepair 500+ v3.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
Prepair 500+ v3.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
Prepair 500+ v3.0 EVC Gene migrated from ENSG00000072840 to ENSG00000072840 (gene set migration)
Prepair 500+ v3.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Prepair 500+ v3.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Prepair 500+ v3.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Prepair 500+ v3.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Prepair 500+ v3.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Prepair 500+ v3.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Prepair 500+ v3.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Prepair 500+ v3.0 HGSNAT Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration)
Prepair 500+ v3.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Prepair 500+ v3.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Prepair 500+ v3.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Prepair 500+ v3.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Prepair 500+ v3.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Prepair 500+ v3.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Prepair 500+ v3.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Prepair 500+ v3.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Prepair 500+ v3.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Prepair 500+ v3.0 EPG5 Gene migrated from ENSG00000152223 to ENSG00000152223 (gene set migration)
Prepair 500+ v3.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Prepair 500+ v3.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Prepair 500+ v3.0 EIF2B5 Gene migrated from ENSG00000145191 to ENSG00000145191 (gene set migration)
Prepair 500+ v3.0 EIF2B4 Gene migrated from ENSG00000115211 to ENSG00000115211 (gene set migration)
Prepair 500+ v3.0 ELP1 Gene migrated from ENSG00000070061 to ENSG00000070061 (gene set migration)
Prepair 500+ v3.0 EIF2B3 Gene migrated from ENSG00000070785 to ENSG00000070785 (gene set migration)
Prepair 500+ v3.0 F2 Gene migrated from ENSG00000180210 to ENSG00000180210 (gene set migration)
Prepair 500+ v3.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Prepair 500+ v3.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Prepair 500+ v3.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Prepair 500+ v3.0 EIF2AK3 Gene migrated from ENSG00000172071 to ENSG00000172071 (gene set migration)
Prepair 500+ v3.0 ECHS1 Gene migrated from ENSG00000127884 to ENSG00000127884 (gene set migration)
Prepair 500+ v3.0 DYSF Gene migrated from ENSG00000135636 to ENSG00000135636 (gene set migration)
Prepair 500+ v3.0 EDA Gene migrated from ENSG00000158813 to ENSG00000158813 (gene set migration)
Prepair 500+ v3.0 DYNC2H1 Gene migrated from ENSG00000187240 to ENSG00000187240 (gene set migration)
Prepair 500+ v3.0 DOK7 Gene migrated from ENSG00000175920 to ENSG00000175920 (gene set migration)
Prepair 500+ v3.0 DOCK6 Gene migrated from ENSG00000130158 to ENSG00000130158 (gene set migration)
Prepair 500+ v3.0 DNMT3B Gene migrated from ENSG00000088305 to ENSG00000088305 (gene set migration)
Prepair 500+ v3.0 DNAI2 Gene migrated from ENSG00000171595 to ENSG00000171595 (gene set migration)
Prepair 500+ v3.0 DNAI1 Gene migrated from ENSG00000122735 to ENSG00000122735 (gene set migration)
Prepair 500+ v3.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Prepair 500+ v3.0 DNAH5 Gene migrated from ENSG00000039139 to ENSG00000039139 (gene set migration)
Prepair 500+ v3.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Prepair 500+ v3.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Prepair 500+ v3.0 DLG3 Gene migrated from ENSG00000082458 to ENSG00000082458 (gene set migration)
Prepair 500+ v3.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Prepair 500+ v3.0 DIS3L2 Gene migrated from ENSG00000144535 to ENSG00000144535 (gene set migration)
Prepair 500+ v3.0 DHCR7 Gene migrated from ENSG00000172893 to ENSG00000172893 (gene set migration)
Prepair 500+ v3.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Prepair 500+ v3.0 DGUOK Gene migrated from ENSG00000114956 to ENSG00000114956 (gene set migration)
Prepair 500+ v3.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Prepair 500+ v3.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
Prepair 500+ v3.0 EXOSC8 Gene migrated from ENSG00000120699 to ENSG00000120699 (gene set migration)
Prepair 500+ v3.0 DGAT1 Gene migrated from ENSG00000185000 to ENSG00000185000 (gene set migration)
Prepair 500+ v3.0 DDX11 Gene migrated from ENSG00000013573 to ENSG00000013573 (gene set migration)
Prepair 500+ v3.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Prepair 500+ v3.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Prepair 500+ v3.0 DCLRE1C Gene migrated from ENSG00000152457 to ENSG00000152457 (gene set migration)
Prepair 500+ v3.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Prepair 500+ v3.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Prepair 500+ v3.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Prepair 500+ v3.0 CYP7B1 Gene migrated from ENSG00000172817 to ENSG00000172817 (gene set migration)
Prepair 500+ v3.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Prepair 500+ v3.0 CYP1B1 Gene migrated from ENSG00000138061 to ENSG00000138061 (gene set migration)
Prepair 500+ v3.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Prepair 500+ v3.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Prepair 500+ v3.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Prepair 500+ v3.0 CYBB Gene migrated from ENSG00000165168 to ENSG00000165168 (gene set migration)
Prepair 500+ v3.0 CYBA Gene migrated from ENSG00000051523 to ENSG00000051523 (gene set migration)
Prepair 500+ v3.0 CTSK Gene migrated from ENSG00000143387 to ENSG00000143387 (gene set migration)
Prepair 500+ v3.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Prepair 500+ v3.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Prepair 500+ v3.0 CTSC Gene migrated from ENSG00000109861 to ENSG00000109861 (gene set migration)
Prepair 500+ v3.0 CTSA Gene migrated from ENSG00000064601 to ENSG00000064601 (gene set migration)
Prepair 500+ v3.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Prepair 500+ v3.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Prepair 500+ v3.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Prepair 500+ v3.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
Prepair 500+ v3.0 EXOSC3 Gene migrated from ENSG00000107371 to ENSG00000107371 (gene set migration)
Prepair 500+ v3.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Prepair 500+ v3.0 CSPP1 Gene migrated from ENSG00000104218 to ENSG00000104218 (gene set migration)
Prepair 500+ v3.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Prepair 500+ v3.0 HMGCS2 Gene migrated from ENSG00000134240 to ENSG00000134240 (gene set migration)
Prepair 500+ v3.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Prepair 500+ v3.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Prepair 500+ v3.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Prepair 500+ v3.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
Prepair 500+ v3.0 CRB1 Gene migrated from ENSG00000134376 to ENSG00000134376 (gene set migration)
Prepair 500+ v3.0 EVC2 Gene migrated from ENSG00000173040 to ENSG00000173040 (gene set migration)
Prepair 500+ v3.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Prepair 500+ v3.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Prepair 500+ v3.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Prepair 500+ v3.0 DYM Gene migrated from ENSG00000141627 to ENSG00000141627 (gene set migration)
Prepair 500+ v3.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Prepair 500+ v3.0 COLEC11 Gene migrated from ENSG00000118004 to ENSG00000118004 (gene set migration)
Prepair 500+ v3.0 COL7A1 Gene migrated from ENSG00000114270 to ENSG00000114270 (gene set migration)
Prepair 500+ v3.0 COLQ Gene migrated from ENSG00000206561 to ENSG00000206561 (gene set migration)
Prepair 500+ v3.0 COL6A1 Gene migrated from ENSG00000142156 to ENSG00000142156 (gene set migration)
Prepair 500+ v3.0 COL4A5 Gene migrated from ENSG00000188153 to ENSG00000188153 (gene set migration)
Prepair 500+ v3.0 COL4A4 Gene migrated from ENSG00000081052 to ENSG00000081052 (gene set migration)
Prepair 500+ v3.0 COL4A3 Gene migrated from ENSG00000169031 to ENSG00000169031 (gene set migration)
Prepair 500+ v3.0 COL27A1 Gene migrated from ENSG00000196739 to ENSG00000196739 (gene set migration)
Prepair 500+ v3.0 COL18A1 Gene migrated from ENSG00000182871 to ENSG00000182871 (gene set migration)
Prepair 500+ v3.0 COL17A1 Gene migrated from ENSG00000065618 to ENSG00000065618 (gene set migration)
Prepair 500+ v3.0 COL11A2 Gene migrated from ENSG00000204248 to ENSG00000204248 (gene set migration)
Prepair 500+ v3.0 CNGB3 Gene migrated from ENSG00000170289 to ENSG00000170289 (gene set migration)
Prepair 500+ v3.0 CLRN1 Gene migrated from ENSG00000163646 to ENSG00000163646 (gene set migration)
Prepair 500+ v3.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Prepair 500+ v3.0 CLP1 Gene migrated from ENSG00000172409 to ENSG00000172409 (gene set migration)
Prepair 500+ v3.0 CLN8 Gene migrated from ENSG00000182372 to ENSG00000182372 (gene set migration)
Prepair 500+ v3.0 CLN6 Gene migrated from ENSG00000128973 to ENSG00000128973 (gene set migration)
Prepair 500+ v3.0 CLN5 Gene migrated from ENSG00000102805 to ENSG00000102805 (gene set migration)
Prepair 500+ v3.0 CLCN7 Gene migrated from ENSG00000103249 to ENSG00000103249 (gene set migration)
Prepair 500+ v3.0 CKAP2L Gene migrated from ENSG00000169607 to ENSG00000169607 (gene set migration)
Prepair 500+ v3.0 CLCN5 Gene migrated from ENSG00000171365 to ENSG00000171365 (gene set migration)
Prepair 500+ v3.0 CIITA Gene migrated from ENSG00000179583 to ENSG00000179583 (gene set migration)
Prepair 500+ v3.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Prepair 500+ v3.0 CHAT Gene migrated from ENSG00000070748 to ENSG00000070748 (gene set migration)
Prepair 500+ v3.0 CHRNE Gene migrated from ENSG00000108556 to ENSG00000108556 (gene set migration)
Prepair 500+ v3.0 CEP41 Gene migrated from ENSG00000106477 to ENSG00000106477 (gene set migration)
Prepair 500+ v3.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Prepair 500+ v3.0 CEP152 Gene migrated from ENSG00000103995 to ENSG00000103995 (gene set migration)
Prepair 500+ v3.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Prepair 500+ v3.0 CDH23 Gene migrated from ENSG00000107736 to ENSG00000107736 (gene set migration)
Prepair 500+ v3.0 CD40LG Gene migrated from ENSG00000102245 to ENSG00000102245 (gene set migration)
Prepair 500+ v3.0 CD40 Gene migrated from ENSG00000101017 to ENSG00000101017 (gene set migration)
Prepair 500+ v3.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Prepair 500+ v3.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Prepair 500+ v3.0 CCDC39 Gene migrated from ENSG00000145075 to ENSG00000284862 (gene set migration)
Prepair 500+ v3.0 CCBE1 Gene migrated from ENSG00000183287 to ENSG00000183287 (gene set migration)
Prepair 500+ v3.0 DNAAF19 Gene symbol changed from CCDC103 to DNAAF19 during gene set migration (ENSG00000167131 -> ENSG00000167131)
Prepair 500+ v3.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Prepair 500+ v3.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Prepair 500+ v3.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
Prepair 500+ v3.0 CC2D1A Gene migrated from ENSG00000132024 to ENSG00000132024 (gene set migration)
Prepair 500+ v3.0 CASQ2 Gene migrated from ENSG00000118729 to ENSG00000118729 (gene set migration)
Prepair 500+ v3.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Prepair 500+ v3.0 ABCA12 Gene migrated from ENSG00000144452 to ENSG00000144452 (gene set migration)
Prepair 500+ v3.0 TGM1 Gene migrated from ENSG00000092295 to ENSG00000092295 (gene set migration)
Prepair 500+ v3.0 TF Gene migrated from ENSG00000091513 to ENSG00000091513 (gene set migration)
Prepair 500+ v3.0 CAPN3 Gene migrated from ENSG00000092529 to ENSG00000092529 (gene set migration)
Prepair 500+ v3.0 CANT1 Gene migrated from ENSG00000171302 to ENSG00000171302 (gene set migration)
Prepair 500+ v3.0 CPLANE1 Gene symbol changed from C5orf42 to CPLANE1 during gene set migration (ENSG00000197603 -> ENSG00000197603)
Prepair 500+ v3.0 BTK Gene migrated from ENSG00000010671 to ENSG00000010671 (gene set migration)
Prepair 500+ v3.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Prepair 500+ v3.0 BRWD3 Gene migrated from ENSG00000165288 to ENSG00000165288 (gene set migration)
Prepair 500+ v3.0 BRAT1 Gene migrated from ENSG00000106009 to ENSG00000106009 (gene set migration)
Prepair 500+ v3.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Prepair 500+ v3.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Prepair 500+ v3.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Prepair 500+ v3.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Prepair 500+ v3.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Prepair 500+ v3.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Prepair 500+ v3.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Prepair 500+ v3.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Prepair 500+ v3.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Prepair 500+ v3.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Prepair 500+ v3.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Prepair 500+ v3.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Prepair 500+ v3.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Prepair 500+ v3.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Prepair 500+ v3.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Prepair 500+ v3.0 ATR Gene migrated from ENSG00000175054 to ENSG00000175054 (gene set migration)
Prepair 500+ v3.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Prepair 500+ v3.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Prepair 500+ v3.0 ATP7B Gene migrated from ENSG00000123191 to ENSG00000123191 (gene set migration)
Prepair 500+ v3.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Prepair 500+ v3.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Prepair 500+ v3.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Prepair 500+ v3.0 ASPM Gene migrated from ENSG00000066279 to ENSG00000066279 (gene set migration)
Prepair 500+ v3.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Prepair 500+ v3.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Prepair 500+ v3.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Prepair 500+ v3.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Prepair 500+ v3.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Prepair 500+ v3.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Prepair 500+ v3.0 ARL13B Gene migrated from ENSG00000169379 to ENSG00000169379 (gene set migration)
Prepair 500+ v3.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Prepair 500+ v3.0 AQP2 Gene migrated from ENSG00000167580 to ENSG00000167580 (gene set migration)
Prepair 500+ v3.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Prepair 500+ v3.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Prepair 500+ v3.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Prepair 500+ v3.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Prepair 500+ v3.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Prepair 500+ v3.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Prepair 500+ v3.0 ALDOB Gene migrated from ENSG00000136872 to ENSG00000136872 (gene set migration)
Prepair 500+ v3.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Prepair 500+ v3.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Prepair 500+ v3.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Prepair 500+ v3.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Prepair 500+ v3.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Prepair 500+ v3.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Prepair 500+ v3.0 AIPL1 Gene migrated from ENSG00000129221 to ENSG00000129221 (gene set migration)
Prepair 500+ v3.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Prepair 500+ v3.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Prepair 500+ v3.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Prepair 500+ v3.0 AGPS Gene migrated from ENSG00000018510 to ENSG00000018510 (gene set migration)
Prepair 500+ v3.0 AGL Gene migrated from ENSG00000162688 to ENSG00000162688 (gene set migration)
Prepair 500+ v3.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (gene set migration)
Prepair 500+ v3.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Prepair 500+ v3.0 ADGRV1 Gene migrated from ENSG00000164199 to ENSG00000164199 (gene set migration)
Prepair 500+ v3.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Prepair 500+ v3.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Prepair 500+ v3.0 GUSB Gene migrated from ENSG00000169919 to ENSG00000169919 (gene set migration)
Prepair 500+ v3.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Prepair 500+ v3.0 ADAMTS2 Gene migrated from ENSG00000087116 to ENSG00000087116 (gene set migration)
Prepair 500+ v3.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Prepair 500+ v3.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Prepair 500+ v3.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Prepair 500+ v3.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Prepair 500+ v3.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Prepair 500+ v3.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Prepair 500+ v3.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Prepair 500+ v3.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Prepair 500+ v3.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Prepair 500+ v3.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Prepair 500+ v3.0 ABCA3 Gene migrated from ENSG00000167972 to ENSG00000167972 (gene set migration)
Prepair 500+ v3.0 OSGEP Gene migrated from ENSG00000092094 to ENSG00000092094 (gene set migration)
Prepair 500+ v3.0 AP1S2 Gene migrated from ENSG00000182287 to ENSG00000182287 (gene set migration)
Prepair 500+ v3.0 USP9X Gene migrated from ENSG00000124486 to ENSG00000124486 (gene set migration)
Prepair 500+ v3.0 IL7R Gene migrated from ENSG00000168685 to ENSG00000168685 (gene set migration)
Prepair 500+ v3.0 ZBTB24 Gene migrated from ENSG00000112365 to ENSG00000112365 (gene set migration)
Prepair 500+ v3.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Prepair 500+ v3.0 XIAP Gene migrated from ENSG00000101966 to ENSG00000101966 (gene set migration)
Prepair 500+ v3.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Prepair 500+ v3.0 VRK1 Gene migrated from ENSG00000100749 to ENSG00000100749 (gene set migration)
Prepair 500+ v3.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Prepair 500+ v3.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Prepair 500+ v3.0 VPS11 Gene migrated from ENSG00000160695 to ENSG00000160695 (gene set migration)
Prepair 500+ v3.0 UNC13D Gene migrated from ENSG00000092929 to ENSG00000092929 (gene set migration)
Prepair 500+ v3.0 UPF3B Gene migrated from ENSG00000125351 to ENSG00000125351 (gene set migration)
Prepair 500+ v3.0 UBE2T Gene migrated from ENSG00000077152 to ENSG00000077152 (gene set migration)
Prepair 500+ v3.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Prepair 500+ v3.0 TSHB Gene migrated from ENSG00000134200 to ENSG00000134200 (gene set migration)
Prepair 500+ v3.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Prepair 500+ v3.0 TPP1 Gene migrated from ENSG00000166340 to ENSG00000166340 (gene set migration)
Prepair 500+ v3.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Prepair 500+ v3.0 SGCG Gene migrated from ENSG00000102683 to ENSG00000102683 (gene set migration)
Prepair 500+ v3.0 OSTM1 Gene migrated from ENSG00000081087 to ENSG00000081087 (gene set migration)
Prepair 500+ v3.0 MTFMT Gene migrated from ENSG00000103707 to ENSG00000103707 (gene set migration)
Prepair 500+ v3.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Prepair 500+ v3.0 MAN2B1 Gene migrated from ENSG00000104774 to ENSG00000104774 (gene set migration)
Prepair 500+ v3.0 LDLRAP1 Gene migrated from ENSG00000157978 to ENSG00000157978 (gene set migration)
Prepair 500+ v3.0 GUCY2D Gene migrated from ENSG00000132518 to ENSG00000132518 (gene set migration)
Prepair 500+ v3.0 FREM2 Gene migrated from ENSG00000150893 to ENSG00000150893 (gene set migration)
Prepair 500+ v3.0 FBXO7 Gene migrated from ENSG00000100225 to ENSG00000100225 (gene set migration)
Prepair 500+ v3.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Prepair 500+ v3.0 DLL3 Gene migrated from ENSG00000090932 to ENSG00000090932 (gene set migration)
Prepair 500+ v3.0 DHDDS Gene migrated from ENSG00000117682 to ENSG00000117682 (gene set migration)
Prepair 500+ v3.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Prepair 500+ v3.0 ARL6 Gene migrated from ENSG00000113966 to ENSG00000113966 (gene set migration)
Prepair 500+ v3.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Prepair 500+ v3.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Prepair 500+ v3.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Prepair 500+ v3.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Prepair 500+ v3.0 Panel migrated to gene set Ensemblv115. Source version: v2.1
Transplant Co-Morbidity v1.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Transplant Co-Morbidity v1.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Transplant Co-Morbidity v1.0 CYP4F2 Gene migrated from ENSG00000186115 to ENSG00000186115 (gene set migration)
Transplant Co-Morbidity v1.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Transplant Co-Morbidity v1.0 CYP3A5 Gene migrated from ENSG00000106258 to ENSG00000106258 (gene set migration)
Transplant Co-Morbidity v1.0 CYP2C9 Gene migrated from ENSG00000138109 to ENSG00000138109 (gene set migration)
Transplant Co-Morbidity v1.0 CYP2C19 Gene migrated from ENSG00000165841 to ENSG00000165841 (gene set migration)
Transplant Co-Morbidity v1.0 SLCO1B1 Gene migrated from ENSG00000134538 to ENSG00000134538 (gene set migration)
Transplant Co-Morbidity v1.0 NUDT15 Gene migrated from ENSG00000136159 to ENSG00000136159 (gene set migration)
Transplant Co-Morbidity v1.0 TPMT Gene migrated from ENSG00000137364 to ENSG00000137364 (gene set migration)
Transplant Co-Morbidity v1.0 MT-RNR1 Gene migrated from ENSG00000211459 to ENSG00000211459 (gene set migration)
Transplant Co-Morbidity v1.0 XYLT2 Gene migrated from ENSG00000015532 to ENSG00000015532 (gene set migration)
Transplant Co-Morbidity v1.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Transplant Co-Morbidity v1.0 WNT1 Gene migrated from ENSG00000125084 to ENSG00000125084 (gene set migration)
Transplant Co-Morbidity v1.0 WIPF1 Gene migrated from ENSG00000115935 to ENSG00000115935 (gene set migration)
Transplant Co-Morbidity v1.0 WFS1 Gene migrated from ENSG00000109501 to ENSG00000109501 (gene set migration)
Transplant Co-Morbidity v1.0 VWF Gene migrated from ENSG00000110799 to ENSG00000110799 (gene set migration)
Transplant Co-Morbidity v1.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Transplant Co-Morbidity v1.0 VKORC1 Gene migrated from ENSG00000167397 to ENSG00000167397 (gene set migration)
Transplant Co-Morbidity v1.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Transplant Co-Morbidity v1.0 VCL Gene migrated from ENSG00000035403 to ENSG00000035403 (gene set migration)
Transplant Co-Morbidity v1.0 UQCRFS1 Gene migrated from ENSG00000169021 to ENSG00000169021 (gene set migration)
Transplant Co-Morbidity v1.0 TULP3 Gene migrated from ENSG00000078246 to ENSG00000078246 (gene set migration)
Transplant Co-Morbidity v1.0 TUBB1 Gene migrated from ENSG00000101162 to ENSG00000101162 (gene set migration)
Transplant Co-Morbidity v1.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
Transplant Co-Morbidity v1.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Transplant Co-Morbidity v1.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Transplant Co-Morbidity v1.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Transplant Co-Morbidity v1.0 TRPV6 Gene migrated from ENSG00000165125 to ENSG00000165125 (gene set migration)
Transplant Co-Morbidity v1.0 TPM4 Gene migrated from ENSG00000167460 to ENSG00000167460 (gene set migration)
Transplant Co-Morbidity v1.0 TRIM63 Gene migrated from ENSG00000158022 to ENSG00000158022 (gene set migration)
Transplant Co-Morbidity v1.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Transplant Co-Morbidity v1.0 TRDN Gene migrated from ENSG00000186439 to ENSG00000186439 (gene set migration)
Transplant Co-Morbidity v1.0 TPM1 Gene migrated from ENSG00000140416 to ENSG00000140416 (gene set migration)
Transplant Co-Morbidity v1.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Transplant Co-Morbidity v1.0 TNNT2 Gene migrated from ENSG00000118194 to ENSG00000118194 (gene set migration)
Transplant Co-Morbidity v1.0 TNNI3K Gene migrated from ENSG00000116783 to ENSG00000116783 (gene set migration)
Transplant Co-Morbidity v1.0 TNNI3 Gene migrated from ENSG00000129991 to ENSG00000129991 (gene set migration)
Transplant Co-Morbidity v1.0 TNNC1 Gene migrated from ENSG00000114854 to ENSG00000114854 (gene set migration)
Transplant Co-Morbidity v1.0 TMEM43 Gene migrated from ENSG00000170876 to ENSG00000170876 (gene set migration)
Transplant Co-Morbidity v1.0 TMEM38B Gene migrated from ENSG00000095209 to ENSG00000095209 (gene set migration)
Transplant Co-Morbidity v1.0 TMEM127 Gene migrated from ENSG00000135956 to ENSG00000135956 (gene set migration)
Transplant Co-Morbidity v1.0 THPO Gene migrated from ENSG00000090534 to ENSG00000090534 (gene set migration)
Transplant Co-Morbidity v1.0 THBD Gene migrated from ENSG00000178726 to ENSG00000178726 (gene set migration)
Transplant Co-Morbidity v1.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Transplant Co-Morbidity v1.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Transplant Co-Morbidity v1.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Transplant Co-Morbidity v1.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Transplant Co-Morbidity v1.0 TECRL Gene migrated from ENSG00000205678 to ENSG00000205678 (gene set migration)
Transplant Co-Morbidity v1.0 TBXAS1 Gene migrated from ENSG00000059377 to ENSG00000059377 (gene set migration)
Transplant Co-Morbidity v1.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Transplant Co-Morbidity v1.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Transplant Co-Morbidity v1.0 STIM1 Gene migrated from ENSG00000167323 to ENSG00000167323 (gene set migration)
Transplant Co-Morbidity v1.0 SRC Gene migrated from ENSG00000197122 to ENSG00000197122 (gene set migration)
Transplant Co-Morbidity v1.0 SPARC Gene migrated from ENSG00000113140 to ENSG00000113140 (gene set migration)
Transplant Co-Morbidity v1.0 SP7 Gene migrated from ENSG00000170374 to ENSG00000170374 (gene set migration)
Transplant Co-Morbidity v1.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Transplant Co-Morbidity v1.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Transplant Co-Morbidity v1.0 SLFN14 Gene migrated from ENSG00000236320 to ENSG00000236320 (gene set migration)
Transplant Co-Morbidity v1.0 SLC40A1 Gene migrated from ENSG00000138449 to ENSG00000138449 (gene set migration)
Transplant Co-Morbidity v1.0 SLC37A4 Gene migrated from ENSG00000137700 to ENSG00000137700 (gene set migration)
Transplant Co-Morbidity v1.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Transplant Co-Morbidity v1.0 SKI Gene migrated from ENSG00000157933 to ENSG00000157933 (gene set migration)
Transplant Co-Morbidity v1.0 SGMS2 Gene migrated from ENSG00000164023 to ENSG00000164023 (gene set migration)
Transplant Co-Morbidity v1.0 SERPINH1 Gene migrated from ENSG00000149257 to ENSG00000149257 (gene set migration)
Transplant Co-Morbidity v1.0 SERPINF2 Gene migrated from ENSG00000167711 to ENSG00000167711 (gene set migration)
Transplant Co-Morbidity v1.0 SERPINF1 Gene migrated from ENSG00000132386 to ENSG00000132386 (gene set migration)
Transplant Co-Morbidity v1.0 SERPINE1 Gene migrated from ENSG00000106366 to ENSG00000106366 (gene set migration)
Transplant Co-Morbidity v1.0 SEC24D Gene migrated from ENSG00000150961 to ENSG00000150961 (gene set migration)
Transplant Co-Morbidity v1.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Transplant Co-Morbidity v1.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Transplant Co-Morbidity v1.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Transplant Co-Morbidity v1.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Transplant Co-Morbidity v1.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Transplant Co-Morbidity v1.0 RYR2 Gene migrated from ENSG00000198626 to ENSG00000198626 (gene set migration)
Transplant Co-Morbidity v1.0 RYR1 Gene migrated from ENSG00000196218 to ENSG00000196218 (gene set migration)
Transplant Co-Morbidity v1.0 RUNX1 Gene migrated from ENSG00000159216 to ENSG00000159216 (gene set migration)
Transplant Co-Morbidity v1.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Transplant Co-Morbidity v1.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
Transplant Co-Morbidity v1.0 RBM20 Gene migrated from ENSG00000203867 to ENSG00000203867 (gene set migration)
Transplant Co-Morbidity v1.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Transplant Co-Morbidity v1.0 RASGRP2 Gene migrated from ENSG00000068831 to ENSG00000068831 (gene set migration)
Transplant Co-Morbidity v1.0 PTPN11 Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration)
Transplant Co-Morbidity v1.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Transplant Co-Morbidity v1.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Transplant Co-Morbidity v1.0 PRKG1 Gene migrated from ENSG00000185532 to ENSG00000185532 (gene set migration)
Transplant Co-Morbidity v1.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Transplant Co-Morbidity v1.0 PRDM16 Gene migrated from ENSG00000142611 to ENSG00000142611 (gene set migration)
Transplant Co-Morbidity v1.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Transplant Co-Morbidity v1.0 PPIB Gene migrated from ENSG00000166794 to ENSG00000166794 (gene set migration)
Transplant Co-Morbidity v1.0 PPARG Gene migrated from ENSG00000132170 to ENSG00000132170 (gene set migration)
Transplant Co-Morbidity v1.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Transplant Co-Morbidity v1.0 PLS3 Gene migrated from ENSG00000102024 to ENSG00000102024 (gene set migration)
Transplant Co-Morbidity v1.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Transplant Co-Morbidity v1.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Transplant Co-Morbidity v1.0 PLN Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration)
Transplant Co-Morbidity v1.0 PLAU Gene migrated from ENSG00000122861 to ENSG00000122861 (gene set migration)
Transplant Co-Morbidity v1.0 PLA2G4A Gene migrated from ENSG00000116711 to ENSG00000116711 (gene set migration)
Transplant Co-Morbidity v1.0 PKP2 Gene migrated from ENSG00000057294 to ENSG00000057294 (gene set migration)
Transplant Co-Morbidity v1.0 PCSK9 Gene migrated from ENSG00000169174 to ENSG00000169174 (gene set migration)
Transplant Co-Morbidity v1.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Transplant Co-Morbidity v1.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Transplant Co-Morbidity v1.0 P4HB Gene migrated from ENSG00000185624 to ENSG00000185624 (gene set migration)
Transplant Co-Morbidity v1.0 P3H1 Gene migrated from ENSG00000117385 to ENSG00000117385 (gene set migration)
Transplant Co-Morbidity v1.0 P2RY12 Gene migrated from ENSG00000169313 to ENSG00000169313 (gene set migration)
Transplant Co-Morbidity v1.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Transplant Co-Morbidity v1.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Transplant Co-Morbidity v1.0 NEXN Gene migrated from ENSG00000162614 to ENSG00000162614 (gene set migration)
Transplant Co-Morbidity v1.0 NEUROD1 Gene migrated from ENSG00000162992 to ENSG00000162992 (gene set migration)
Transplant Co-Morbidity v1.0 NBEAL2 Gene migrated from ENSG00000160796 to ENSG00000160796 (gene set migration)
Transplant Co-Morbidity v1.0 NBAS Gene migrated from ENSG00000151779 to ENSG00000151779 (gene set migration)
Transplant Co-Morbidity v1.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Transplant Co-Morbidity v1.0 MYL3 Gene migrated from ENSG00000160808 to ENSG00000160808 (gene set migration)
Transplant Co-Morbidity v1.0 MYL2 Gene migrated from ENSG00000111245 to ENSG00000111245 (gene set migration)
Transplant Co-Morbidity v1.0 NOTCH1 Gene migrated from ENSG00000148400 to ENSG00000148400 (gene set migration)
Transplant Co-Morbidity v1.0 MYH9 Gene migrated from ENSG00000100345 to ENSG00000100345 (gene set migration)
Transplant Co-Morbidity v1.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Transplant Co-Morbidity v1.0 MYBPC3 Gene migrated from ENSG00000134571 to ENSG00000134571 (gene set migration)
Transplant Co-Morbidity v1.0 MTTP Gene migrated from ENSG00000138823 to ENSG00000138823 (gene set migration)
Transplant Co-Morbidity v1.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Transplant Co-Morbidity v1.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Transplant Co-Morbidity v1.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
Transplant Co-Morbidity v1.0 MPIG6B Gene migrated from ENSG00000204420 to ENSG00000204420 (gene set migration)
Transplant Co-Morbidity v1.0 MPI Gene migrated from ENSG00000178802 to ENSG00000178802 (gene set migration)
Transplant Co-Morbidity v1.0 MYH11 Gene migrated from ENSG00000133392 to ENSG00000133392 (gene set migration)
Transplant Co-Morbidity v1.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Transplant Co-Morbidity v1.0 MESD Gene migrated from ENSG00000117899 to ENSG00000117899 (gene set migration)
Transplant Co-Morbidity v1.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Transplant Co-Morbidity v1.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Transplant Co-Morbidity v1.0 MECOM Gene migrated from ENSG00000085276 to ENSG00000085276 (gene set migration)
Transplant Co-Morbidity v1.0 MCFD2 Gene migrated from ENSG00000180398 to ENSG00000180398 (gene set migration)
Transplant Co-Morbidity v1.0 MAX Gene migrated from ENSG00000125952 to ENSG00000125952 (gene set migration)
Transplant Co-Morbidity v1.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Transplant Co-Morbidity v1.0 LRP5 Gene migrated from ENSG00000162337 to ENSG00000162337 (gene set migration)
Transplant Co-Morbidity v1.0 LPL Gene migrated from ENSG00000175445 to ENSG00000175445 (gene set migration)
Transplant Co-Morbidity v1.0 LOX Gene migrated from ENSG00000113083 to ENSG00000113083 (gene set migration)
Transplant Co-Morbidity v1.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Transplant Co-Morbidity v1.0 LMF1 Gene migrated from ENSG00000103227 to ENSG00000103227 (gene set migration)
Transplant Co-Morbidity v1.0 LMAN1 Gene migrated from ENSG00000074695 to ENSG00000074695 (gene set migration)
Transplant Co-Morbidity v1.0 LIPC Gene migrated from ENSG00000166035 to ENSG00000166035 (gene set migration)
Transplant Co-Morbidity v1.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Transplant Co-Morbidity v1.0 LDLRAP1 Gene migrated from ENSG00000157978 to ENSG00000157978 (gene set migration)
Transplant Co-Morbidity v1.0 LDLR Gene migrated from ENSG00000130164 to ENSG00000130164 (gene set migration)
Transplant Co-Morbidity v1.0 LCAT Gene migrated from ENSG00000213398 to ENSG00000213398 (gene set migration)
Transplant Co-Morbidity v1.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Transplant Co-Morbidity v1.0 KLHL24 Gene migrated from ENSG00000114796 to ENSG00000114796 (gene set migration)
Transplant Co-Morbidity v1.0 KDSR Gene migrated from ENSG00000119537 to ENSG00000119537 (gene set migration)
Transplant Co-Morbidity v1.0 KDELR2 Gene migrated from ENSG00000136240 to ENSG00000136240 (gene set migration)
Transplant Co-Morbidity v1.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Transplant Co-Morbidity v1.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Transplant Co-Morbidity v1.0 KCNJ2 Gene migrated from ENSG00000123700 to ENSG00000123700 (gene set migration)
Transplant Co-Morbidity v1.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Transplant Co-Morbidity v1.0 KCNH2 Gene migrated from ENSG00000055118 to ENSG00000055118 (gene set migration)
Transplant Co-Morbidity v1.0 ITGB3 Gene migrated from ENSG00000259207 to ENSG00000259207 (gene set migration)
Transplant Co-Morbidity v1.0 ITGA2B Gene migrated from ENSG00000005961 to ENSG00000005961 (gene set migration)
Transplant Co-Morbidity v1.0 INSR Gene migrated from ENSG00000171105 to ENSG00000171105 (gene set migration)
Transplant Co-Morbidity v1.0 INS Gene migrated from ENSG00000254647 to ENSG00000254647 (gene set migration)
Transplant Co-Morbidity v1.0 IFITM5 Gene migrated from ENSG00000206013 to ENSG00000206013 (gene set migration)
Transplant Co-Morbidity v1.0 HRG Gene migrated from ENSG00000113905 to ENSG00000113905 (gene set migration)
Transplant Co-Morbidity v1.0 HPS6 Gene migrated from ENSG00000166189 to ENSG00000166189 (gene set migration)
Transplant Co-Morbidity v1.0 HPS5 Gene migrated from ENSG00000110756 to ENSG00000110756 (gene set migration)
Transplant Co-Morbidity v1.0 HPS4 Gene migrated from ENSG00000100099 to ENSG00000100099 (gene set migration)
Transplant Co-Morbidity v1.0 HPS3 Gene migrated from ENSG00000163755 to ENSG00000163755 (gene set migration)
Transplant Co-Morbidity v1.0 HPS1 Gene migrated from ENSG00000107521 to ENSG00000107521 (gene set migration)
Transplant Co-Morbidity v1.0 HNF4A Gene migrated from ENSG00000101076 to ENSG00000101076 (gene set migration)
Transplant Co-Morbidity v1.0 HNF1B Gene migrated from ENSG00000275410 to ENSG00000275410 (gene set migration)
Transplant Co-Morbidity v1.0 HNF1A Gene migrated from ENSG00000135100 to ENSG00000135100 (gene set migration)
Transplant Co-Morbidity v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Transplant Co-Morbidity v1.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Transplant Co-Morbidity v1.0 GPIHBP1 Gene migrated from ENSG00000277494 to ENSG00000277494 (gene set migration)
Transplant Co-Morbidity v1.0 GP9 Gene migrated from ENSG00000169704 to ENSG00000169704 (gene set migration)
Transplant Co-Morbidity v1.0 GP6 Gene migrated from ENSG00000088053 to ENSG00000088053 (gene set migration)
Transplant Co-Morbidity v1.0 GP1BB Gene migrated from ENSG00000203618 to ENSG00000203618 (gene set migration)
Transplant Co-Morbidity v1.0 GP1BA Gene migrated from ENSG00000185245 to ENSG00000185245 (gene set migration)
Transplant Co-Morbidity v1.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (gene set migration)
Transplant Co-Morbidity v1.0 GNE Gene migrated from ENSG00000159921 to ENSG00000159921 (gene set migration)
Transplant Co-Morbidity v1.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Transplant Co-Morbidity v1.0 GGCX Gene migrated from ENSG00000115486 to ENSG00000115486 (gene set migration)
Transplant Co-Morbidity v1.0 GFI1B Gene migrated from ENSG00000165702 to ENSG00000165702 (gene set migration)
Transplant Co-Morbidity v1.0 GCK Gene migrated from ENSG00000106633 to ENSG00000106633 (gene set migration)
Transplant Co-Morbidity v1.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Transplant Co-Morbidity v1.0 GATA6 Gene migrated from ENSG00000141448 to ENSG00000141448 (gene set migration)
Transplant Co-Morbidity v1.0 GATA4 Gene migrated from ENSG00000136574 to ENSG00000136574 (gene set migration)
Transplant Co-Morbidity v1.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Transplant Co-Morbidity v1.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Transplant Co-Morbidity v1.0 FLNC Gene migrated from ENSG00000128591 to ENSG00000128591 (gene set migration)
Transplant Co-Morbidity v1.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Transplant Co-Morbidity v1.0 FLI1 Gene migrated from ENSG00000151702 to ENSG00000151702 (gene set migration)
Transplant Co-Morbidity v1.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Transplant Co-Morbidity v1.0 FKBP10 Gene migrated from ENSG00000141756 to ENSG00000141756 (gene set migration)
Transplant Co-Morbidity v1.0 FHOD3 Gene migrated from ENSG00000134775 to ENSG00000134775 (gene set migration)
Transplant Co-Morbidity v1.0 FHL1 Gene migrated from ENSG00000022267 to ENSG00000022267 (gene set migration)
Transplant Co-Morbidity v1.0 IKZF5 Gene migrated from ENSG00000095574 to ENSG00000095574 (gene set migration)
Transplant Co-Morbidity v1.0 FGG Gene migrated from ENSG00000171557 to ENSG00000171557 (gene set migration)
Transplant Co-Morbidity v1.0 FGB Gene migrated from ENSG00000171564 to ENSG00000171564 (gene set migration)
Transplant Co-Morbidity v1.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Transplant Co-Morbidity v1.0 FERMT3 Gene migrated from ENSG00000149781 to ENSG00000149781 (gene set migration)
Transplant Co-Morbidity v1.0 TENT5A Gene symbol changed from FAM46A to TENT5A during gene set migration (ENSG00000112773 -> ENSG00000112773)
Transplant Co-Morbidity v1.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Transplant Co-Morbidity v1.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Transplant Co-Morbidity v1.0 F8 Gene migrated from ENSG00000185010 to ENSG00000185010 (gene set migration)
Transplant Co-Morbidity v1.0 F7 Gene migrated from ENSG00000057593 to ENSG00000057593 (gene set migration)
Transplant Co-Morbidity v1.0 F5 Gene migrated from ENSG00000198734 to ENSG00000198734 (gene set migration)
Transplant Co-Morbidity v1.0 F2 Gene migrated from ENSG00000180210 to ENSG00000180210 (gene set migration)
Transplant Co-Morbidity v1.0 F13B Gene migrated from ENSG00000143278 to ENSG00000143278 (gene set migration)
Transplant Co-Morbidity v1.0 F11 Gene migrated from ENSG00000088926 to ENSG00000088926 (gene set migration)
Transplant Co-Morbidity v1.0 ETV6 Gene migrated from ENSG00000139083 to ENSG00000139083 (gene set migration)
Transplant Co-Morbidity v1.0 ENG Gene migrated from ENSG00000106991 to ENSG00000106991 (gene set migration)
Transplant Co-Morbidity v1.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Transplant Co-Morbidity v1.0 DTNBP1 Gene migrated from ENSG00000047579 to ENSG00000047579 (gene set migration)
Transplant Co-Morbidity v1.0 DSP Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration)
Transplant Co-Morbidity v1.0 DSG2 Gene migrated from ENSG00000046604 to ENSG00000046604 (gene set migration)
Transplant Co-Morbidity v1.0 DSC2 Gene migrated from ENSG00000134755 to ENSG00000134755 (gene set migration)
Transplant Co-Morbidity v1.0 F13A1 Gene migrated from ENSG00000124491 to ENSG00000124491 (gene set migration)
Transplant Co-Morbidity v1.0 DMD Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration)
Transplant Co-Morbidity v1.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Transplant Co-Morbidity v1.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Transplant Co-Morbidity v1.0 F10 Gene migrated from ENSG00000126218 to ENSG00000126218 (gene set migration)
Transplant Co-Morbidity v1.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Transplant Co-Morbidity v1.0 CSRP3 Gene migrated from ENSG00000129170 to ENSG00000129170 (gene set migration)
Transplant Co-Morbidity v1.0 CRTAP Gene migrated from ENSG00000170275 to ENSG00000170275 (gene set migration)
Transplant Co-Morbidity v1.0 CREB3L1 Gene migrated from ENSG00000157613 to ENSG00000157613 (gene set migration)
Transplant Co-Morbidity v1.0 COPB2 Gene migrated from ENSG00000184432 to ENSG00000184432 (gene set migration)
Transplant Co-Morbidity v1.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
Transplant Co-Morbidity v1.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Transplant Co-Morbidity v1.0 COL1A2 Gene migrated from ENSG00000164692 to ENSG00000164692 (gene set migration)
Transplant Co-Morbidity v1.0 COL1A1 Gene migrated from ENSG00000108821 to ENSG00000108821 (gene set migration)
Transplant Co-Morbidity v1.0 CDKN2A Gene migrated from ENSG00000147889 to ENSG00000147889 (gene set migration)
Transplant Co-Morbidity v1.0 CDK4 Gene migrated from ENSG00000135446 to ENSG00000135446 (gene set migration)
Transplant Co-Morbidity v1.0 CDC42 Gene migrated from ENSG00000070831 to ENSG00000070831 (gene set migration)
Transplant Co-Morbidity v1.0 CCDC134 Gene migrated from ENSG00000100147 to ENSG00000100147 (gene set migration)
Transplant Co-Morbidity v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Transplant Co-Morbidity v1.0 CASQ2 Gene migrated from ENSG00000118729 to ENSG00000118729 (gene set migration)
Transplant Co-Morbidity v1.0 CALM3 Gene migrated from ENSG00000160014 to ENSG00000160014 (gene set migration)
Transplant Co-Morbidity v1.0 CALM2 Gene migrated from ENSG00000143933 to ENSG00000143933 (gene set migration)
Transplant Co-Morbidity v1.0 CALM1 Gene migrated from ENSG00000198668 to ENSG00000198668 (gene set migration)
Transplant Co-Morbidity v1.0 CACNA1S Gene migrated from ENSG00000081248 to ENSG00000081248 (gene set migration)
Transplant Co-Morbidity v1.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Transplant Co-Morbidity v1.0 C1QBP Gene migrated from ENSG00000108561 to ENSG00000108561 (gene set migration)
Transplant Co-Morbidity v1.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Transplant Co-Morbidity v1.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Transplant Co-Morbidity v1.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Transplant Co-Morbidity v1.0 BMP1 Gene migrated from ENSG00000168487 to ENSG00000168487 (gene set migration)
Transplant Co-Morbidity v1.0 BLOC1S6 Gene migrated from ENSG00000104164 to ENSG00000104164 (gene set migration)
Transplant Co-Morbidity v1.0 BLOC1S5 Gene migrated from ENSG00000188428 to ENSG00000188428 (gene set migration)
Transplant Co-Morbidity v1.0 BLOC1S3 Gene migrated from ENSG00000189114 to ENSG00000189114 (gene set migration)
Transplant Co-Morbidity v1.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Transplant Co-Morbidity v1.0 BAG3 Gene migrated from ENSG00000151929 to ENSG00000151929 (gene set migration)
Transplant Co-Morbidity v1.0 B4GALT7 Gene migrated from ENSG00000027847 to ENSG00000027847 (gene set migration)
Transplant Co-Morbidity v1.0 B3GALT6 Gene migrated from ENSG00000176022 to ENSG00000176022 (gene set migration)
Transplant Co-Morbidity v1.0 ATP7B Gene migrated from ENSG00000123191 to ENSG00000123191 (gene set migration)
Transplant Co-Morbidity v1.0 ARPC1B Gene migrated from ENSG00000130429 to ENSG00000130429 (gene set migration)
Transplant Co-Morbidity v1.0 APOE Gene migrated from ENSG00000130203 to ENSG00000130203 (gene set migration)
Transplant Co-Morbidity v1.0 APOC2 Gene migrated from ENSG00000234906 to ENSG00000234906 (gene set migration)
Transplant Co-Morbidity v1.0 APOB Gene migrated from ENSG00000084674 to ENSG00000084674 (gene set migration)
Transplant Co-Morbidity v1.0 APOA5 Gene migrated from ENSG00000110243 to ENSG00000110243 (gene set migration)
Transplant Co-Morbidity v1.0 APOA1 Gene migrated from ENSG00000118137 to ENSG00000118137 (gene set migration)
Transplant Co-Morbidity v1.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Transplant Co-Morbidity v1.0 BAG5 Gene migrated from ENSG00000166170 to ENSG00000166170 (gene set migration)
Transplant Co-Morbidity v1.0 AP3B1 Gene migrated from ENSG00000132842 to ENSG00000132842 (gene set migration)
Transplant Co-Morbidity v1.0 ANO6 Gene migrated from ENSG00000177119 to ENSG00000177119 (gene set migration)
Transplant Co-Morbidity v1.0 ANO5 Gene migrated from ENSG00000171714 to ENSG00000171714 (gene set migration)
Transplant Co-Morbidity v1.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
Transplant Co-Morbidity v1.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Transplant Co-Morbidity v1.0 ALPK3 Gene migrated from ENSG00000136383 to ENSG00000136383 (gene set migration)
Transplant Co-Morbidity v1.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Transplant Co-Morbidity v1.0 AKT2 Gene migrated from ENSG00000105221 to ENSG00000105221 (gene set migration)
Transplant Co-Morbidity v1.0 ADAMTS13 Gene migrated from ENSG00000160323 to ENSG00000160323 (gene set migration)
Transplant Co-Morbidity v1.0 ACVRL1 Gene migrated from ENSG00000139567 to ENSG00000139567 (gene set migration)
Transplant Co-Morbidity v1.0 ACTN1 Gene migrated from ENSG00000072110 to ENSG00000072110 (gene set migration)
Transplant Co-Morbidity v1.0 ACTC1 Gene migrated from ENSG00000159251 to ENSG00000159251 (gene set migration)
Transplant Co-Morbidity v1.0 ACTB Gene migrated from ENSG00000075624 to ENSG00000075624 (gene set migration)
Transplant Co-Morbidity v1.0 ACTA2 Gene migrated from ENSG00000107796 to ENSG00000107796 (gene set migration)
Transplant Co-Morbidity v1.0 ABCG8 Gene migrated from ENSG00000143921 to ENSG00000143921 (gene set migration)
Transplant Co-Morbidity v1.0 ABCG5 Gene migrated from ENSG00000138075 to ENSG00000138075 (gene set migration)
Transplant Co-Morbidity v1.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Transplant Co-Morbidity v1.0 ABCA1 Gene migrated from ENSG00000165029 to ENSG00000165029 (gene set migration)
Transplant Co-Morbidity v1.0 CHST14 Gene migrated from ENSG00000169105 to ENSG00000169105 (gene set migration)
Transplant Co-Morbidity v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.21
Facial papules v2.0 ARHGAP36 downstream regulatory region Region ARHGAP36 downstream regulatory region migrated (gene set migration)
Facial papules v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Facial papules v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Facial papules v2.0 IDS Gene migrated from ENSG00000010404 to ENSG00000010404 (gene set migration)
Facial papules v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Facial papules v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Facial papules v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Facial papules v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Facial papules v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Facial papules v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Facial papules v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Facial papules v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Facial papules v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Facial papules v2.0 HR Gene migrated from ENSG00000168453 to ENSG00000168453 (gene set migration)
Facial papules v2.0 CYLD Gene migrated from ENSG00000083799 to ENSG00000083799 (gene set migration)
Facial papules v2.0 IDUA Gene migrated from ENSG00000127415 to ENSG00000127415 (gene set migration)
Facial papules v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Facial papules v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Facial papules v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Facial papules v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Facial papules v2.0 ECM1 Gene migrated from ENSG00000143369 to ENSG00000143369 (gene set migration)
Facial papules v2.0 ATP2A2 Gene migrated from ENSG00000174437 to ENSG00000174437 (gene set migration)
Facial papules v2.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Facial papules v2.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Facial papules v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.3
Renal Tubulopathies and related disorders v2.0 SLC6A6 Gene migrated from ENSG00000131389 to ENSG00000131389 (gene set migration)
Renal Tubulopathies and related disorders v2.0 EGF Gene migrated from ENSG00000138798 to ENSG00000138798 (gene set migration)
Renal Tubulopathies and related disorders v2.0 TRPV5 Gene migrated from ENSG00000127412 to ENSG00000127412 (gene set migration)
Renal Tubulopathies and related disorders v2.0 NHERF1 Gene symbol changed from SLC9A3R1 to NHERF1 during gene set migration (ENSG00000109062 -> ENSG00000109062)
Renal Tubulopathies and related disorders v2.0 EGFR Gene migrated from ENSG00000146648 to ENSG00000146648 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ATP6V1C2 Gene migrated from ENSG00000143882 to ENSG00000143882 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC6A20 Gene migrated from ENSG00000163817 to ENSG00000163817 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC26A1 Gene migrated from ENSG00000145217 to ENSG00000145217 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC25A25 Gene migrated from ENSG00000148339 to ENSG00000148339 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC1A1 Gene migrated from ENSG00000106688 to ENSG00000106688 (gene set migration)
Renal Tubulopathies and related disorders v2.0 NDUFAF6 Gene migrated from ENSG00000156170 to ENSG00000156170 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC36A2 Gene migrated from ENSG00000186335 to ENSG00000186335 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KL Gene migrated from ENSG00000133116 to ENSG00000133116 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FXYD2 Gene migrated from ENSG00000137731 to ENSG00000137731 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLCNKA Gene migrated from ENSG00000186510 to ENSG00000186510 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ADCY10 Gene migrated from ENSG00000143199 to ENSG00000143199 (gene set migration)
Renal Tubulopathies and related disorders v2.0 TFCP2L1 Gene migrated from ENSG00000115112 to ENSG00000115112 (gene set migration)
Renal Tubulopathies and related disorders v2.0 OXGR1 Gene migrated from ENSG00000165621 to ENSG00000165621 (gene set migration)
Renal Tubulopathies and related disorders v2.0 STRADA Gene migrated from ENSG00000266173 to ENSG00000266173 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC7A9 Gene migrated from ENSG00000021488 to ENSG00000021488 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC6A19 Gene migrated from ENSG00000174358 to ENSG00000174358 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC5A2 Gene migrated from ENSG00000140675 to ENSG00000140675 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC4A1 Gene migrated from ENSG00000004939 to ENSG00000004939 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC3A1 Gene migrated from ENSG00000138079 to ENSG00000138079 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC34A3 Gene migrated from ENSG00000198569 to ENSG00000198569 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC12A1 Gene migrated from ENSG00000074803 to ENSG00000074803 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SCNN1G Gene migrated from ENSG00000166828 to ENSG00000166828 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SCNN1B Gene migrated from ENSG00000168447 to ENSG00000168447 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SCNN1A Gene migrated from ENSG00000111319 to ENSG00000111319 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SCN4A Gene migrated from ENSG00000007314 to ENSG00000007314 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SARS2 Gene migrated from ENSG00000104835 to ENSG00000104835 (gene set migration)
Renal Tubulopathies and related disorders v2.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Renal Tubulopathies and related disorders v2.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Renal Tubulopathies and related disorders v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Renal Tubulopathies and related disorders v2.0 PTH1R Gene migrated from ENSG00000160801 to ENSG00000160801 (gene set migration)
Renal Tubulopathies and related disorders v2.0 PTH Gene migrated from ENSG00000152266 to ENSG00000152266 (gene set migration)
Renal Tubulopathies and related disorders v2.0 PHEX Gene migrated from ENSG00000102174 to ENSG00000102174 (gene set migration)
Renal Tubulopathies and related disorders v2.0 PDE3A Gene migrated from ENSG00000172572 to ENSG00000172572 (gene set migration)
Renal Tubulopathies and related disorders v2.0 PCBD1 Gene migrated from ENSG00000166228 to ENSG00000166228 (gene set migration)
Renal Tubulopathies and related disorders v2.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Renal Tubulopathies and related disorders v2.0 NR3C2 Gene migrated from ENSG00000151623 to ENSG00000151623 (gene set migration)
Renal Tubulopathies and related disorders v2.0 NR3C1 Gene migrated from ENSG00000113580 to ENSG00000113580 (gene set migration)
Renal Tubulopathies and related disorders v2.0 MOCOS Gene migrated from ENSG00000075643 to ENSG00000075643 (gene set migration)
Renal Tubulopathies and related disorders v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Renal Tubulopathies and related disorders v2.0 MAGED2 Gene migrated from ENSG00000102316 to ENSG00000102316 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KLHL3 Gene migrated from ENSG00000146021 to ENSG00000146021 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KCNJ5 Gene migrated from ENSG00000120457 to ENSG00000120457 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KCNJ16 Gene migrated from ENSG00000153822 to ENSG00000153822 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KCNJ10 Gene migrated from ENSG00000177807 to ENSG00000177807 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KCNJ1 Gene migrated from ENSG00000151704 to ENSG00000151704 (gene set migration)
Renal Tubulopathies and related disorders v2.0 KCNA1 Gene migrated from ENSG00000111262 to ENSG00000111262 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HSD11B2 Gene migrated from ENSG00000176387 to ENSG00000176387 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HOGA1 Gene migrated from ENSG00000241935 to ENSG00000241935 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HNF4A Gene migrated from ENSG00000101076 to ENSG00000101076 (gene set migration)
Renal Tubulopathies and related disorders v2.0 HNF1B Gene migrated from ENSG00000275410 to ENSG00000275410 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GRHPR Gene migrated from ENSG00000137106 to ENSG00000137106 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GNAS Gene migrated from ENSG00000087460 to ENSG00000087460 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GNA11 Gene migrated from ENSG00000088256 to ENSG00000088256 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GATA3 Gene migrated from ENSG00000107485 to ENSG00000107485 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GALNT3 Gene migrated from ENSG00000115339 to ENSG00000115339 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FOXI1 Gene migrated from ENSG00000168269 to ENSG00000168269 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FGF23 Gene migrated from ENSG00000118972 to ENSG00000118972 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FAM20C Gene migrated from ENSG00000177706 to ENSG00000177706 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FAM20A Gene migrated from ENSG00000108950 to ENSG00000108950 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FAM111A Gene migrated from ENSG00000166801 to ENSG00000166801 (gene set migration)
Renal Tubulopathies and related disorders v2.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Renal Tubulopathies and related disorders v2.0 DMP1 Gene migrated from ENSG00000152592 to ENSG00000152592 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP2R1 Gene migrated from ENSG00000186104 to ENSG00000186104 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP27B1 Gene migrated from ENSG00000111012 to ENSG00000111012 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP24A1 Gene migrated from ENSG00000019186 to ENSG00000019186 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CUL3 Gene migrated from ENSG00000036257 to ENSG00000036257 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CTNS Gene migrated from ENSG00000040531 to ENSG00000040531 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CNNM2 Gene migrated from ENSG00000148842 to ENSG00000148842 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLDN19 Gene migrated from ENSG00000164007 to ENSG00000164007 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLDN16 Gene migrated from ENSG00000113946 to ENSG00000113946 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLCNKB Gene migrated from ENSG00000184908 to ENSG00000184908 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLCN5 Gene migrated from ENSG00000171365 to ENSG00000171365 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLCN2 Gene migrated from ENSG00000114859 to ENSG00000114859 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CACNA1S Gene migrated from ENSG00000081248 to ENSG00000081248 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CACNA1H Gene migrated from ENSG00000196557 to ENSG00000196557 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CACNA1D Gene migrated from ENSG00000157388 to ENSG00000157388 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CA2 Gene migrated from ENSG00000104267 to ENSG00000104267 (gene set migration)
Renal Tubulopathies and related disorders v2.0 BSND Gene migrated from ENSG00000162399 to ENSG00000162399 (gene set migration)
Renal Tubulopathies and related disorders v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AVPR2 Gene migrated from ENSG00000126895 to ENSG00000126895 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ATP1A1 Gene migrated from ENSG00000163399 to ENSG00000163399 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AP2S1 Gene migrated from ENSG00000042753 to ENSG00000042753 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AQP2 Gene migrated from ENSG00000167580 to ENSG00000167580 (gene set migration)
Renal Tubulopathies and related disorders v2.0 APRT Gene migrated from ENSG00000198931 to ENSG00000198931 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AMMECR1 Gene migrated from ENSG00000101935 to ENSG00000101935 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AGXT Gene migrated from ENSG00000172482 to ENSG00000172482 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC34A1 Gene migrated from ENSG00000131183 to ENSG00000131183 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC2A9 Gene migrated from ENSG00000109667 to ENSG00000109667 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC2A2 Gene migrated from ENSG00000163581 to ENSG00000163581 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC22A12 Gene migrated from ENSG00000197891 to ENSG00000197891 (gene set migration)
Renal Tubulopathies and related disorders v2.0 SLC12A3 Gene migrated from ENSG00000070915 to ENSG00000070915 (gene set migration)
Renal Tubulopathies and related disorders v2.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Renal Tubulopathies and related disorders v2.0 LCAT Gene migrated from ENSG00000213398 to ENSG00000213398 (gene set migration)
Renal Tubulopathies and related disorders v2.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ATP6V0A4 Gene migrated from ENSG00000105929 to ENSG00000105929 (gene set migration)
Renal Tubulopathies and related disorders v2.0 EHHADH Gene migrated from ENSG00000113790 to ENSG00000113790 (gene set migration)
Renal Tubulopathies and related disorders v2.0 TRPM7 Gene migrated from ENSG00000092439 to ENSG00000092439 (gene set migration)
Renal Tubulopathies and related disorders v2.0 AVP Gene migrated from ENSG00000101200 to ENSG00000101200 (gene set migration)
Renal Tubulopathies and related disorders v2.0 RRAGD Gene migrated from ENSG00000025039 to ENSG00000025039 (gene set migration)
Renal Tubulopathies and related disorders v2.0 XDH Gene migrated from ENSG00000158125 to ENSG00000158125 (gene set migration)
Renal Tubulopathies and related disorders v2.0 WNK4 Gene migrated from ENSG00000126562 to ENSG00000126562 (gene set migration)
Renal Tubulopathies and related disorders v2.0 WNK1 Gene migrated from ENSG00000060237 to ENSG00000060237 (gene set migration)
Renal Tubulopathies and related disorders v2.0 WDR72 Gene migrated from ENSG00000166415 to ENSG00000166415 (gene set migration)
Renal Tubulopathies and related disorders v2.0 VPS33B Gene migrated from ENSG00000184056 to ENSG00000184056 (gene set migration)
Renal Tubulopathies and related disorders v2.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Renal Tubulopathies and related disorders v2.0 VDR Gene migrated from ENSG00000111424 to ENSG00000111424 (gene set migration)
Renal Tubulopathies and related disorders v2.0 UMOD Gene migrated from ENSG00000169344 to ENSG00000169344 (gene set migration)
Renal Tubulopathies and related disorders v2.0 TRPM6 Gene migrated from ENSG00000119121 to ENSG00000119121 (gene set migration)
Renal Tubulopathies and related disorders v2.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Renal Tubulopathies and related disorders v2.0 STX16 Gene migrated from ENSG00000124222 to ENSG00000124222 (gene set migration)
Renal Tubulopathies and related disorders v2.0 ATP6V1B1 Gene migrated from ENSG00000116039 to ENSG00000116039 (gene set migration)
Renal Tubulopathies and related disorders v2.0 CLDN10 Gene migrated from ENSG00000134873 to ENSG00000134873 (gene set migration)
Renal Tubulopathies and related disorders v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.26
Cerebral amyloid angiopathy v2.0 PSEN2 Gene migrated from ENSG00000143801 to ENSG00000143801 (gene set migration)
Cerebral amyloid angiopathy v2.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Cerebral amyloid angiopathy v2.0 PSEN1 Gene migrated from ENSG00000080815 to ENSG00000080815 (gene set migration)
Cerebral amyloid angiopathy v2.0 APP Gene migrated from ENSG00000142192 to ENSG00000142192 (gene set migration)
Cerebral amyloid angiopathy v2.0 ITM2B Gene migrated from ENSG00000136156 to ENSG00000136156 (gene set migration)
Cerebral amyloid angiopathy v2.0 CST3 Gene migrated from ENSG00000101439 to ENSG00000101439 (gene set migration)
Cerebral amyloid angiopathy v2.0 PRNP Gene migrated from ENSG00000171867 to ENSG00000171867 (gene set migration)
Cerebral amyloid angiopathy v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Pneumothorax v2.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Pneumothorax v2.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Pneumothorax v2.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Pneumothorax v2.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Pneumothorax v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Pneumothorax v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Pneumothorax v2.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Pneumothorax v2.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Pneumothorax v2.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Pneumothorax v2.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Pneumothorax v2.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Pneumothorax v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Pneumothorax v2.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Pneumothorax v2.0 SERPINA1 Gene migrated from ENSG00000197249 to ENSG00000197249 (gene set migration)
Pneumothorax v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Pneumothorax v2.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Pneumothorax v2.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Pneumothorax v2.0 IPO8 Gene migrated from ENSG00000133704 to ENSG00000133704 (gene set migration)
Pneumothorax v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Genomic newborn screening: BabyScreen+ v2.0 CTU2 Gene migrated from ENSG00000174177 to ENSG00000174177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMO Gene migrated from ENSG00000128602 to ENSG00000128602 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC33A1 Gene migrated from ENSG00000169359 to ENSG00000169359 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC27A5 Gene migrated from ENSG00000083807 to ENSG00000083807 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A22 Gene migrated from ENSG00000177542 to ENSG00000177542 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC25A12 Gene migrated from ENSG00000115840 to ENSG00000115840 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC16A12 Gene migrated from ENSG00000152779 to ENSG00000152779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC12A5 Gene migrated from ENSG00000124140 to ENSG00000124140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC11A2 Gene migrated from ENSG00000110911 to ENSG00000110911 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RANGRF Gene migrated from ENSG00000108961 to ENSG00000108961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAD51B Gene migrated from ENSG00000182185 to ENSG00000182185 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RAB10 Gene migrated from ENSG00000084733 to ENSG00000084733 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSEN2 Gene migrated from ENSG00000143801 to ENSG00000143801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSEN1 Gene migrated from ENSG00000080815 to ENSG00000080815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRRX1 Gene migrated from ENSG00000116132 to ENSG00000116132 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRODH Gene migrated from ENSG00000100033 to ENSG00000100033 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PRKCSH Gene migrated from ENSG00000130175 to ENSG00000130175 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PNPLA1 Gene migrated from ENSG00000180316 to ENSG00000180316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLN Gene migrated from ENSG00000198523 to ENSG00000198523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHOX2A Gene migrated from ENSG00000165462 to ENSG00000165462 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PHKA1 Gene migrated from ENSG00000067177 to ENSG00000067177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX16 Gene migrated from ENSG00000121680 to ENSG00000121680 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX14 Gene migrated from ENSG00000142655 to ENSG00000142655 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PEX11B Gene migrated from ENSG00000131779 to ENSG00000131779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NUB1 Gene migrated from ENSG00000013374 to ENSG00000013374 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NRXN1 Gene migrated from ENSG00000179915 to ENSG00000179915 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NRG1 Gene migrated from ENSG00000157168 to ENSG00000157168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NR1H4 Gene migrated from ENSG00000012504 to ENSG00000012504 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NPPA Gene migrated from ENSG00000175206 to ENSG00000175206 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOTCH1 Gene migrated from ENSG00000148400 to ENSG00000148400 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOP10 Gene migrated from ENSG00000182117 to ENSG00000182117 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NME8 Gene migrated from ENSG00000086288 to ENSG00000086288 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLRP7 Gene migrated from ENSG00000167634 to ENSG00000167634 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYPN Gene migrated from ENSG00000138347 to ENSG00000138347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOZ2 Gene migrated from ENSG00000172399 to ENSG00000172399 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOT Gene migrated from ENSG00000120729 to ENSG00000120729 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYOM1 Gene migrated from ENSG00000101605 to ENSG00000101605 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO5A Gene migrated from ENSG00000197535 to ENSG00000197535 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1F Gene migrated from ENSG00000142347 to ENSG00000142347 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1E Gene migrated from ENSG00000157483 to ENSG00000157483 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYO1C Gene migrated from ENSG00000197879 to ENSG00000197879 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYLK2 Gene migrated from ENSG00000101306 to ENSG00000101306 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MYH6 Gene migrated from ENSG00000197616 to ENSG00000197616 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MATN4 Gene migrated from ENSG00000124159 to ENSG00000124159 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAPT Gene migrated from ENSG00000186868 to ENSG00000186868 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAPK10 Gene migrated from ENSG00000109339 to ENSG00000109339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LYZ Gene migrated from ENSG00000090382 to ENSG00000090382 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LUM Gene migrated from ENSG00000139329 to ENSG00000139329 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LRRK2 Gene migrated from ENSG00000188906 to ENSG00000188906 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LPP Gene migrated from ENSG00000145012 to ENSG00000145012 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIF22 Gene migrated from ENSG00000079616 to ENSG00000079616 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Genomic newborn screening: BabyScreen+ v2.0 KIF1B Gene migrated from ENSG00000054523 to ENSG00000054523 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KDM5B Gene migrated from ENSG00000117139 to ENSG00000117139 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNQ1OT1 Gene migrated from ENSG00000269821 to ENSG00000269821 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ8 Gene migrated from ENSG00000121361 to ENSG00000121361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNJ5 Gene migrated from ENSG00000120457 to ENSG00000120457 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ISCU Gene migrated from ENSG00000136003 to ENSG00000136003 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IRS1 Gene migrated from ENSG00000169047 to ENSG00000169047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ILK Gene migrated from ENSG00000166333 to ENSG00000166333 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IGBP1 Gene migrated from ENSG00000089289 to ENSG00000089289 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT80 Gene migrated from ENSG00000068885 to ENSG00000068885 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT43 Gene migrated from ENSG00000119650 to ENSG00000119650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 IFT122 Gene migrated from ENSG00000163913 to ENSG00000163913 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYLS1 Gene migrated from ENSG00000198331 to ENSG00000198331 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYDIN Gene migrated from ENSG00000157423 to ENSG00000157423 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HERC2 Gene migrated from ENSG00000128731 to ENSG00000128731 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HAS2 Gene migrated from ENSG00000170961 to ENSG00000170961 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HARS1 Gene symbol changed from HARS to HARS1 during gene set migration (ENSG00000170445 -> ENSG00000170445)
Genomic newborn screening: BabyScreen+ v2.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 H19 Gene migrated from ENSG00000130600 to ENSG00000130600 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GYG1 Gene migrated from ENSG00000163754 to ENSG00000163754 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLE1 Gene migrated from ENSG00000119392 to ENSG00000119392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDNF Gene migrated from ENSG00000168621 to ENSG00000168621 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDF1 Gene migrated from ENSG00000130283 to ENSG00000130283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCSH Gene migrated from ENSG00000140905 to ENSG00000140905 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GCLC Gene migrated from ENSG00000001084 to ENSG00000001084 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAM111B Gene migrated from ENSG00000189057 to ENSG00000189057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAAH2 Gene migrated from ENSG00000165591 to ENSG00000165591 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERBB3 Gene migrated from ENSG00000065361 to ENSG00000065361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTNBP1 Gene migrated from ENSG00000047579 to ENSG00000047579 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTNA Gene migrated from ENSG00000134769 to ENSG00000134769 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DTHD1 Gene migrated from ENSG00000197057 to ENSG00000197057 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPP6 Gene migrated from ENSG00000130226 to ENSG00000130226 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DPM1 Gene migrated from ENSG00000000419 to ENSG00000000419 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAL1 Gene migrated from ENSG00000119661 to ENSG00000119661 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC5 Gene migrated from ENSG00000101152 to ENSG00000101152 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSRP3 Gene migrated from ENSG00000129170 to ENSG00000129170 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF2RB Gene migrated from ENSG00000100368 to ENSG00000100368 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CSF1R Gene migrated from ENSG00000182578 to ENSG00000182578 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPZ Gene migrated from ENSG00000109625 to ENSG00000109625 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COX4I2 Gene migrated from ENSG00000131055 to ENSG00000131055 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CPAP Gene symbol changed from CENPJ to CPAP during gene set migration (ENSG00000151849 -> ENSG00000151849)
Genomic newborn screening: BabyScreen+ v2.0 CEACAM16 Gene migrated from ENSG00000213892 to ENSG00000213892 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD96 Gene migrated from ENSG00000153283 to ENSG00000153283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD46 Gene migrated from ENSG00000117335 to ENSG00000117335 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD36 Gene migrated from ENSG00000135218 to ENSG00000135218 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC78 Gene migrated from ENSG00000162004 to ENSG00000162004 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC50 Gene migrated from ENSG00000152492 to ENSG00000152492 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 POPDC1 Gene symbol changed from BVES to POPDC1 during gene set migration (ENSG00000112276 -> ENSG00000112276)
Genomic newborn screening: BabyScreen+ v2.0 BPGM Gene migrated from ENSG00000172331 to ENSG00000172331 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BNC2 Gene migrated from ENSG00000173068 to ENSG00000173068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLOC1S6 Gene migrated from ENSG00000104164 to ENSG00000104164 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLOC1S3 Gene migrated from ENSG00000189114 to ENSG00000189114 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BDNF Gene migrated from ENSG00000176697 to ENSG00000176697 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BAG3 Gene migrated from ENSG00000151929 to ENSG00000151929 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B9D2 Gene migrated from ENSG00000123810 to ENSG00000123810 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B4GALT1 Gene migrated from ENSG00000086062 to ENSG00000086062 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B3GAT3 Gene migrated from ENSG00000149541 to ENSG00000149541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARID1A Gene migrated from ENSG00000117713 to ENSG00000117713 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARHGAP31 Gene migrated from ENSG00000031081 to ENSG00000031081 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APP Gene migrated from ENSG00000142192 to ENSG00000142192 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APOE Gene migrated from ENSG00000130203 to ENSG00000130203 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AP1S3 Gene migrated from ENSG00000152056 to ENSG00000152056 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANO5 Gene migrated from ENSG00000171714 to ENSG00000171714 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANKRD1 Gene migrated from ENSG00000148677 to ENSG00000148677 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMPD1 Gene migrated from ENSG00000116748 to ENSG00000116748 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTA1 Gene migrated from ENSG00000143632 to ENSG00000143632 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACSF3 Gene migrated from ENSG00000176715 to ENSG00000176715 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACBD5 Gene migrated from ENSG00000107897 to ENSG00000107897 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADL Gene migrated from ENSG00000115361 to ENSG00000115361 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCC9 Gene migrated from ENSG00000069431 to ENSG00000069431 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE1 Gene migrated from ENSG00000180509 to ENSG00000180509 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GPD1L Gene migrated from ENSG00000152642 to ENSG00000152642 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACADSB Gene migrated from ENSG00000196177 to ENSG00000196177 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZIC3 Gene migrated from ENSG00000156925 to ENSG00000156925 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZMPSTE24 Gene migrated from ENSG00000084073 to ENSG00000084073 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTF1 Gene migrated from ENSG00000150281 to ENSG00000150281 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZEB2 Gene migrated from ENSG00000169554 to ENSG00000169554 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZIC2 Gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NOG Gene migrated from ENSG00000183691 to ENSG00000183691 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 UBR1 Gene migrated from ENSG00000159459 to ENSG00000159459 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TYR Gene migrated from ENSG00000077498 to ENSG00000077498 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TTC21B Gene migrated from ENSG00000123607 to ENSG00000123607 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TPM2 Gene migrated from ENSG00000198467 to ENSG00000198467 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFAP2B Gene migrated from ENSG00000008196 to ENSG00000008196 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFG Gene migrated from ENSG00000114354 to ENSG00000114354 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TFAP2A Gene migrated from ENSG00000137203 to ENSG00000137203 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Genomic newborn screening: BabyScreen+ v2.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 STRA6 Gene migrated from ENSG00000137868 to ENSG00000137868 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPRED1 Gene migrated from ENSG00000166068 to ENSG00000166068 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPINK5 Gene migrated from ENSG00000133710 to ENSG00000133710 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPEG Gene migrated from ENSG00000072195 to ENSG00000072195 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ESCO2 Gene migrated from ENSG00000171320 to ENSG00000171320 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CDK5RAP2 Gene migrated from ENSG00000136861 to ENSG00000136861 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC35D1 Gene migrated from ENSG00000116704 to ENSG00000116704 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIX1 Gene migrated from ENSG00000126778 to ENSG00000126778 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SIL1 Gene migrated from ENSG00000120725 to ENSG00000120725 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SETX Gene migrated from ENSG00000107290 to ENSG00000107290 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SELENON Gene migrated from ENSG00000162430 to ENSG00000162430 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN2A Gene migrated from ENSG00000136531 to ENSG00000136531 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN3A Gene migrated from ENSG00000153253 to ENSG00000153253 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCN1A Gene migrated from ENSG00000144285 to ENSG00000144285 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RS1 Gene migrated from ENSG00000102104 to ENSG00000102104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RSPH4A Gene migrated from ENSG00000111834 to ENSG00000111834 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RSPH9 Gene migrated from ENSG00000172426 to ENSG00000172426 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ROR2 Gene migrated from ENSG00000169071 to ENSG00000169071 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KCNE2 Gene migrated from ENSG00000159197 to ENSG00000159197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BMPR2 Gene migrated from ENSG00000204217 to ENSG00000204217 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TUBB4B Gene migrated from ENSG00000188229 to ENSG00000188229 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD164 Gene migrated from ENSG00000135535 to ENSG00000135535 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 COL4A6 Gene migrated from ENSG00000197565 to ENSG00000197565 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRYM Gene migrated from ENSG00000103316 to ENSG00000103316 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CLDN9 Gene migrated from ENSG00000213937 to ENSG00000213937 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP250 Gene migrated from ENSG00000126001 to ENSG00000126001 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABHD12 Gene migrated from ENSG00000100997 to ENSG00000100997 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPARC Gene migrated from ENSG00000113140 to ENSG00000113140 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PPIB Gene migrated from ENSG00000166794 to ENSG00000166794 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PLOD2 Gene migrated from ENSG00000152952 to ENSG00000152952 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPING1 Gene migrated from ENSG00000149131 to ENSG00000149131 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SORD Gene migrated from ENSG00000140263 to ENSG00000140263 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MTHFS Gene migrated from ENSG00000136371 to ENSG00000136371 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NLGN4X Gene migrated from ENSG00000146938 to ENSG00000146938 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF143 Gene migrated from ENSG00000166478 to ENSG00000166478 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CR2 Gene migrated from ENSG00000117322 to ENSG00000117322 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CD81 Gene migrated from ENSG00000110651 to ENSG00000110651 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCCC2 Gene migrated from ENSG00000131844 to ENSG00000131844 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MCCC1 Gene migrated from ENSG00000078070 to ENSG00000078070 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MAT1A Gene migrated from ENSG00000151224 to ENSG00000151224 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HPD Gene migrated from ENSG00000158104 to ENSG00000158104 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GNPTAB Gene migrated from ENSG00000111670 to ENSG00000111670 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CRLF1 Gene migrated from ENSG00000006016 to ENSG00000006016 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KAT6B Gene migrated from ENSG00000156650 to ENSG00000156650 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT16 Gene migrated from ENSG00000186832 to ENSG00000186832 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HINT1 Gene migrated from ENSG00000169567 to ENSG00000169567 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 HYCC1 Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591)
Genomic newborn screening: BabyScreen+ v2.0 FGD4 Gene migrated from ENSG00000139132 to ENSG00000139132 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FBN2 Gene migrated from ENSG00000138829 to ENSG00000138829 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FGFR2 Gene migrated from ENSG00000066468 to ENSG00000066468 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 FAS Gene migrated from ENSG00000026103 to ENSG00000026103 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC8 Gene migrated from ENSG00000049167 to ENSG00000049167 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 RFWD3 Gene migrated from ENSG00000168411 to ENSG00000168411 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EYA4 Gene migrated from ENSG00000112319 to ENSG00000112319 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TSR2 Gene migrated from ENSG00000158526 to ENSG00000158526 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDA Gene migrated from ENSG00000158813 to ENSG00000158813 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 EDAR Gene migrated from ENSG00000135960 to ENSG00000135960 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DYSF Gene migrated from ENSG00000135636 to ENSG00000135636 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFPT1 Gene migrated from ENSG00000198380 to ENSG00000198380 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DMPK Gene migrated from ENSG00000104936 to ENSG00000104936 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 PCNT Gene migrated from ENSG00000160299 to ENSG00000160299 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SGCA Gene migrated from ENSG00000108823 to ENSG00000108823 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CHRNG Gene migrated from ENSG00000196811 to ENSG00000196811 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP2A1 Gene migrated from ENSG00000196296 to ENSG00000196296 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG14 Gene migrated from ENSG00000172339 to ENSG00000172339 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CAPN3 Gene migrated from ENSG00000092529 to ENSG00000092529 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 LAMA3 Gene migrated from ENSG00000053747 to ENSG00000053747 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP78 Gene migrated from ENSG00000148019 to ENSG00000148019 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ABCA4 Gene migrated from ENSG00000198691 to ENSG00000198691 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACAD8 Gene migrated from ENSG00000151498 to ENSG00000151498 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AARS1 Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861)
Genomic newborn screening: BabyScreen+ v2.0 GAN Gene migrated from ENSG00000261609 to ENSG00000261609 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 VIPAS39 Gene migrated from ENSG00000151445 to ENSG00000151445 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACVR1 Gene migrated from ENSG00000115170 to ENSG00000115170 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ATP2B2 Gene migrated from ENSG00000157087 to ENSG00000157087 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APOB Gene migrated from ENSG00000084674 to ENSG00000084674 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NEFL Gene migrated from ENSG00000277586 to ENSG00000277586 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CFC1 Gene migrated from ENSG00000136698 to ENSG00000136698 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALAS2 Gene migrated from ENSG00000158578 to ENSG00000158578 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANTXR2 Gene migrated from ENSG00000163297 to ENSG00000163297 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AHI1 Gene migrated from ENSG00000135541 to ENSG00000135541 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CCDC40 Gene migrated from ENSG00000141519 to ENSG00000141519 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MPZ Gene migrated from ENSG00000158887 to ENSG00000158887 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ADK Gene migrated from ENSG00000156110 to ENSG00000156110 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF469 Gene migrated from ENSG00000225614 to ENSG00000225614 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 B3GLCT Gene migrated from ENSG00000187676 to ENSG00000187676 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MGAT2 Gene migrated from ENSG00000168282 to ENSG00000168282 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 AMELX Gene migrated from ENSG00000125363 to ENSG00000125363 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACTN4 Gene migrated from ENSG00000130402 to ENSG00000130402 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 MED25 Gene migrated from ENSG00000104973 to ENSG00000104973 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ALOXE3 Gene migrated from ENSG00000179148 to ENSG00000179148 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ACE Gene migrated from ENSG00000159640 to ENSG00000159640 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF674 Gene migrated from ENSG00000251192 to ENSG00000251192 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZNF252P Gene migrated from ENSG00000196922 to ENSG00000196922 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ZFPM2 Gene migrated from ENSG00000169946 to ENSG00000169946 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT7A Gene migrated from ENSG00000154764 to ENSG00000154764 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT5A Gene migrated from ENSG00000114251 to ENSG00000114251 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WNT3 Gene migrated from ENSG00000108379 to ENSG00000108379 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR36 Gene migrated from ENSG00000134987 to ENSG00000134987 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 WDR35 Gene migrated from ENSG00000118965 to ENSG00000118965 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRIP11 Gene migrated from ENSG00000100815 to ENSG00000100815 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TRH Gene migrated from ENSG00000170893 to ENSG00000170893 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TNXB Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMPO Gene migrated from ENSG00000120802 to ENSG00000120802 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM237 Gene migrated from ENSG00000155755 to ENSG00000155755 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TMEM216 Gene migrated from ENSG00000187049 to ENSG00000187049 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 TJP2 Gene migrated from ENSG00000119139 to ENSG00000119139 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 THBS1 Gene migrated from ENSG00000137801 to ENSG00000137801 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SYT14 Gene migrated from ENSG00000143469 to ENSG00000143469 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SYNE4 Gene migrated from ENSG00000181392 to ENSG00000181392 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 ST14 Gene migrated from ENSG00000149418 to ENSG00000149418 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SPTLC2 Gene migrated from ENSG00000100596 to ENSG00000100596 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOX18 Gene migrated from ENSG00000203883 to ENSG00000203883 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SOD1 Gene migrated from ENSG00000142168 to ENSG00000142168 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLCO1B3 Gene migrated from ENSG00000111700 to ENSG00000111700 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLCO1B1 Gene migrated from ENSG00000134538 to ENSG00000134538 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 NHERF1 Gene symbol changed from SLC9A3R1 to NHERF1 during gene set migration (ENSG00000109062 -> ENSG00000109062)
Genomic newborn screening: BabyScreen+ v2.0 SLC6A2 Gene migrated from ENSG00000103546 to ENSG00000103546 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC4A10 Gene migrated from ENSG00000144290 to ENSG00000144290 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SLC41A1 Gene migrated from ENSG00000133065 to ENSG00000133065 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SHOC2 Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SH3BP2 Gene migrated from ENSG00000087266 to ENSG00000087266 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SFTPA2 Gene migrated from ENSG00000185303 to ENSG00000185303 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPIND1 Gene migrated from ENSG00000099937 to ENSG00000099937 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINC1 Gene migrated from ENSG00000117601 to ENSG00000117601 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SERPINB6 Gene migrated from ENSG00000124570 to ENSG00000124570 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SEC63 Gene migrated from ENSG00000025796 to ENSG00000025796 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCP2 Gene migrated from ENSG00000116171 to ENSG00000116171 (gene set migration)
Genomic newborn screening: BabyScreen+ v2.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)