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Severe Paediatric Disorders v1.180 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Severe Paediatric Disorders v1.176 FAM111A Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Severe Paediatric Disorders v1.159 DCC Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract

in relation to the condition HGPPS2 (See OMIM)
there was only 1 report before, but evidence building now
Severe Paediatric Disorders v1.147 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 to Congenital myopathy 3 with rigid spine, OMIM:602771
Severe Paediatric Disorders v1.144 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh edited their review of gene: STXBP1: Added comment: PMID: 31855252 reports a homozygous STXBP1 variant (NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)) in two sisters with developmental and epileptic encephalopathy 4 (OMIM:612164). Their mother and unaffected sister were heterozygous for NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)(the father was deceased). Functional studies showed that this variant had a lesser effect on protein stability in comparison with the heterozygous variants previously reported. However, patch clamp recordings demonstrated that p.Leu446Phe causes a 2-fold increase in evoked synaptic transmission, leading to the conclusion that this variant was having a gain-of-function effect. Although the majority of STXBP1 variants are heterozygous, with a loss-of -function effect, the results published in PMID: 31855252, suggest that there maybe further complexity to mechanisms involved in the development of developmental and epileptic encephalopathy 4. PMID: 35190816 used a computational approach, together with biomedical ontologies, to characterize phenotypic features in STXBP1-related disorders, such that groups of HPO terms could be associated with certain STXBP1 variants.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh Added comment: Comment on mode of inheritance: Due to the report of biallelic STXBP1 variants in a family with encephalopathy, developmental delay, intellectual disability and epilepsy (PMID: 31855252), the mode of inheritance for this gene has been changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Severe Paediatric Disorders v1.125 ACO2 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34056600 reports 61 cases of genetically unsolved inherited optic neuropathies who were harbouring variants in ACO2, of which 50 carried dominant variants (the remaining 11 cases were biallelic). The authors state that this is the first report of monoallelic pathogenic ACO2 variants resulting in dominant optic atrophy.
Severe Paediatric Disorders v1.97 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Porokeratosis 3, multiple types, OMIM:175900
Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Severe Paediatric Disorders v1.86 DMPK Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Severe Paediatric Disorders v1.55 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
Severe Paediatric Disorders v1.20 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Severe Paediatric Disorders v0.12 PORCN Louise Daugherty reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 POR Louise Daugherty reviewed gene: POR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Publications for gene PORCN were updated from to 30847515
Severe Paediatric Disorders v0.11 POR Louise Daugherty Publications for gene POR were updated from to 30847515
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 POR Louise Daugherty Mode of inheritance for gene POR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.10 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.10 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.10 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.10 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.10 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.10 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.10 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.10 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.10 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.10 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.10 PPOX Louise Daugherty Added phenotypes Porphyria variegata, 176200 for gene: PPOX
Severe Paediatric Disorders v0.10 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.10 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.10 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.10 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.10 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.10 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.10 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
Severe Paediatric Disorders v0.10 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.10 LGI1 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 1, 600512 for gene: LGI1
Severe Paediatric Disorders v0.10 LAMA1 Louise Daugherty Added phenotypes Poretti-Boltshauser syndrome, 615960 for gene: LAMA1
Severe Paediatric Disorders v0.10 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.10 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.10 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.10 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.10 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.10 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.10 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.10 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.10 COL4A5 Louise Daugherty Added phenotypes Alport syndrome 1, X-linked, 301050 for gene: COL4A5
Severe Paediatric Disorders v0.10 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.10 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.10 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.10 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.10 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.10 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.10 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.9 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PPOX Louise Daugherty Added phenotypes Porphyria variegata, 176200 for gene: PPOX
Severe Paediatric Disorders v0.9 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 LGI1 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 1, 600512 for gene: LGI1
Severe Paediatric Disorders v0.9 LAMA1 Louise Daugherty Added phenotypes Poretti-Boltshauser syndrome, 615960 for gene: LAMA1
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.9 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.9 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.9 COL4A5 Louise Daugherty Added phenotypes Alport syndrome 1, X-linked, 301050 for gene: COL4A5
Severe Paediatric Disorders v0.9 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.9 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.9 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PPOX Louise Daugherty Added phenotypes Porphyria variegata, 176200 for gene: PPOX
Severe Paediatric Disorders v0.9 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 LGI1 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 1, 600512 for gene: LGI1
Severe Paediatric Disorders v0.9 LAMA1 Louise Daugherty Added phenotypes Poretti-Boltshauser syndrome, 615960 for gene: LAMA1
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 GRN Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
Severe Paediatric Disorders v0.9 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 DGUOK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
Severe Paediatric Disorders v0.9 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.9 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.9 COL4A5 Louise Daugherty Added phenotypes Alport syndrome 1, X-linked, 301050 for gene: COL4A5
Severe Paediatric Disorders v0.9 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.9 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.8 SIM1 Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Added phenotypes Porphyria, hepatoerythropoietic, 176100; Porphyria cutanea tarda, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 TPM3 Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.8 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.8 TARDBP Louise Daugherty Added phenotypes Frontotemporal lobar degeneration, TARDBP-related, 612069; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.8 SQSTM1 Louise Daugherty Added phenotypes Myopathy, distal, with rimmed vacuoles, 617158; Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.8 SLC16A1 Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 7, 610021; Erythrocyte lactate transporter defect, 245340; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.8 SELENON Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.8 PSEN1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; ?Acne inversa, familial, 3, 613737; Pick disease, 172700; Alzheimer disease, type 3, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.8 PPOX Louise Daugherty Added phenotypes Porphyria variegata, 176200 for gene: PPOX
Severe Paediatric Disorders v0.8 PORCN Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
Severe Paediatric Disorders v0.8 POR Louise Daugherty Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 for gene: POR
Severe Paediatric Disorders v0.8 PLS3 Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
Severe Paediatric Disorders v0.8 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.8 MVK Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377; Porokeratosis 3, multiple types, 175900 for gene: MVK
Severe Paediatric Disorders v0.8 MAPT Louise Daugherty Added phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274; Supranuclear palsy, progressive atypical, 260540; Supranuclear palsy, progressive, 601104; Pick disease, 172700 for gene: MAPT
Severe Paediatric Disorders v0.8 MAP3K20 Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
Severe Paediatric Disorders v0.8 LRP5 Louise Daugherty Added phenotypes Osteoporosis-pseudoglioma syndrome, 259770; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750; Osteopetrosis, autosomal dominant 1, 607634; Osteosclerosis, 144750; van Buchem disease, type 2, 607636 for gene: LRP5
Severe Paediatric Disorders v0.8 LGI1 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 1, 600512 for gene: LGI1
Severe Paediatric Disorders v0.8 LAMA1 Louise Daugherty Added phenotypes Poretti-Boltshauser syndrome, 615960 for gene: LAMA1
Severe Paediatric Disorders v0.8 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 for gene: HMBS
Severe Paediatric Disorders v0.8 GRN Louise Daugherty Added phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485; Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706 for gene: GRN
Severe Paediatric Disorders v0.8 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.8 FIG4 Louise Daugherty Added phenotypes ?Polymicrogyria, bilateral temporooccipital, 612691; Yunis-Varon syndrome, 216340; Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.8 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.8 DGUOK Louise Daugherty Added phenotypes Portal hypertension, noncirrhotic, 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 for gene: DGUOK
Severe Paediatric Disorders v0.8 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.8 CPA6 Louise Daugherty Added phenotypes Febrile seizures, familial, 11, 614418; Epilepsy, familial temporal lobe, 5, 614417 for gene: CPA6
Severe Paediatric Disorders v0.8 COL4A5 Louise Daugherty Added phenotypes Alport syndrome 1, X-linked, 301050 for gene: COL4A5
Severe Paediatric Disorders v0.8 COL4A4 Louise Daugherty Added phenotypes Hematuria, familial benign, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A4
Severe Paediatric Disorders v0.8 COL4A3 Louise Daugherty Added phenotypes Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780; Alport syndrome 3, autosomal dominant, 104200 for gene: COL4A3
Severe Paediatric Disorders v0.8 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.8 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.8 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.8 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.8 ACTA1 Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800 for gene: ACTA1
Severe Paediatric Disorders v0.8 SIM1 Louise Daugherty Mode of inheritance for gene SIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Mode of inheritance for gene VCP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Mode of inheritance for gene UROD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 TPM3 Louise Daugherty Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.8 TBK1 Louise Daugherty Mode of inheritance for gene TBK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.8 TARDBP Louise Daugherty Mode of inheritance for gene TARDBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.8 SQSTM1 Louise Daugherty Mode of inheritance for gene SQSTM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.8 SLC16A1 Louise Daugherty Mode of inheritance for gene SLC16A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.8 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.7 PORCN Louise Daugherty Source Next Generation Children Project was added to PORCN.
Severe Paediatric Disorders v0.7 POR Louise Daugherty Source Next Generation Children Project was added to POR.
Severe Paediatric Disorders v0.5 PORCN Louise Daugherty Source Expert Review Green was added to PORCN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 POR Louise Daugherty Source Expert Review Green was added to POR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PORCN Louise Daugherty gene: PORCN was added
gene: PORCN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PORCN was set to
Severe Paediatric Disorders v0.4 POR Louise Daugherty gene: POR was added
gene: POR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: POR was set to