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Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome to Fraser syndrome 1, MIM#219000
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Classified gene: FRAS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.990 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Marked gene: GLDC as ready
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899
Genomic newborn screening: BabyScreen+ v0.989 GLDC Zornitza Stark Publications for gene: GLDC were set to
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Tag for review tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLDC Zornitza Stark reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Gangliosidosis GM1 to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Genomic newborn screening: BabyScreen+ v0.986 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Classified gene: GLB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.984 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Marked gene: F10 as ready
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Classified gene: F10 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark Tag for review tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Marked gene: FTL as ready
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Phenotypes for gene: FTL were changed from Neuroferritinopathy to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Classified gene: FTL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Marked gene: FXN as ready
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Phenotypes for gene: FXN were changed from Friedreich ataxia to Friedreich ataxia MONDO:0100339
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 FXN Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MONDO:0100339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from Weaver syndrome 2 to Weaver syndrome MIM#277590
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 10, MIM# 601316
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Classified gene: EYA4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Classified gene: EYA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Genomic newborn screening: BabyScreen+ v0.972 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.971 EXT2 Zornitza Stark Classified gene: EXT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.971 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from Exostoses, multiple, type 1 to Exostoses, multiple, type 1, MIM# 133700
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Classified gene: EXT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 1, MIM# 133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
Genomic newborn screening: BabyScreen+ v0.967 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.966 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.966 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Marked gene: EVC as ready
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Classified gene: EVC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.963 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.962 EFTUD2 Zornitza Stark edited their review of gene: EFTUD2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from Hearing loss to Deafness, autosomal recessive 35, MIM#608565
Genomic newborn screening: BabyScreen+ v0.961 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Marked gene: ESPN as ready
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Classified gene: ESCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Classified gene: ERCC8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome to Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955; Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Classified gene: ERCC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955, Cockayne syndrome, type B, MIM# 133540 MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Classified gene: ERCC5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Classified gene: ERCC2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou edited their review of gene: GLB1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou edited their review of gene: GLDC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou changed review comment from: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718); to: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou edited their review of gene: GLRA1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLUD1 John Christodoulou reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35752848; Phenotypes: hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32319239, PMID: 25356525; Phenotypes: hyperekplexia, stiffness, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16404748, PMID: 34513771; Phenotypes: acute encephalopathy, seizures, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34539759; Phenotypes: neurodegeneration, coarse facial features, gingival hyperplasia, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLA John Christodoulou reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30017653; Phenotypes: neuropathic pain, cardiomyopathy, cataract, agniokeratomata, deafness, hypohidrosis, stroke, renal failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.950 GIF John Christodoulou reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35337622; Phenotypes: pernicious anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou changed review comment from: can have its onset in the newborn period and can be severe

treatable with vitamin K; to: can have its onset in the newborn period and can be severe

treatable with vitamin K
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Marked gene: CST3 as ready
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Classified gene: CST3 as Green List (high evidence)
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.4 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423
Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150
Mode of pathogenicity for gene: CST3 was set to Other
Review for gene: CST3 was set to GREEN
Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6.
Sources: Expert list
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Marked gene: APP as ready
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Classified gene: APP as Green List (high evidence)
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.2 APP Bryony Thompson gene: APP was added
gene: APP was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 16178030; 11409420; 16612981; 19225789
Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related MONDO:0011583
Mode of pathogenicity for gene: APP was set to Other
Review for gene: APP was set to GREEN
gene: APP was marked as current diagnostic
Added comment: Well-established cause of cerebral amyloid angiopathy. Loss of function is not the mechanism of disease. Disease-causing missense substitutions cause an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
Sources: Expert list
Cerebral amyloid angiopathy v0.1 Bryony Thompson List of related panels changed from to Cerebral amyloid angiopathy; HP:0011970
Cerebral amyloid angiopathy v0.0 Bryony Thompson Added Panel Cerebral amyloid angiopathy
Set panel types to: Royal Melbourne Hospital
Mendeliome v1.478 CLEC3B Zornitza Stark Marked gene: CLEC3B as ready
Mendeliome v1.478 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Mendeliome v1.478 CLEC3B Zornitza Stark Classified gene: CLEC3B as Green List (high evidence)
Mendeliome v1.478 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Mendeliome v1.477 CLEC3B Zornitza Stark Tag founder tag was added to gene: CLEC3B.
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Marked gene: CLEC3B as ready
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Tag founder tag was added to gene: CLEC3B.
Intellectual disability syndromic and non-syndromic v0.5029 TBC1D2B Chirag Patel Classified gene: TBC1D2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5029 TBC1D2B Chirag Patel Gene: tbc1d2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5028 TBC1D2B Chirag Patel reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36029130; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM #619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.477 CLEC3B Chirag Patel gene: CLEC3B was added
gene: CLEC3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLEC3B were set to PMID: 35331648
Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977
Review for gene: CLEC3B was set to GREEN
Added comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.

Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: Literature
Mendeliome v1.476 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Renal Ciliopathies and Nephronophthisis v1.13 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Fetal anomalies v1.76 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.32 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Ciliopathies v1.37 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Classified gene: CLEC3B as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.39 CLEC3B Chirag Patel gene: CLEC3B was added
gene: CLEC3B was added to Macular Dystrophy/Stargardt Disease. Sources: Literature
Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLEC3B were set to PMID: 35331648
Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977
Review for gene: CLEC3B was set to GREEN
Added comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.

Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark edited their review of gene: EPS8: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Lafora disease MONDO:0009697
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Classified gene: EPM2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.947 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Arterial calcification, generalized, of infancy, 1 to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark changed review comment from: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements; to: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Onset is congenital/early infancy.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark Tag treatable tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.476 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092
Microcephaly v1.172 ARPC4 Zornitza Stark Marked gene: ARPC4 as ready
Microcephaly v1.172 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v1.475 ARPC4 Zornitza Stark reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047857; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.172 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092
Microcephaly v1.171 ARPC4 Zornitza Stark Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Microcephaly v1.170 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed publications: 35047857
Microcephaly v1.170 ARPC4 Zornitza Stark reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v1.18 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555; 34494111
Brain Calcification v1.17 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; MONDO:0014004
Brain Calcification v1.16 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Classified gene: TTC7A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470
Genomic newborn screening: BabyScreen+ v0.943 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Classified gene: TTC37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
Genomic newborn screening: BabyScreen+ v0.940 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.939 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.939 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Marked gene: TSHR as ready
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Genomic newborn screening: BabyScreen+ v0.935 TSHR Zornitza Stark Publications for gene: TSHR were set to
Genomic newborn screening: BabyScreen+ v0.934 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.933 TSHR Zornitza Stark Tag for review tag was added to gene: TSHR.
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Marked gene: TSHB as ready
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4 to Hypothyroidism, congenital, nongoitrous 4, MIM#275100
Genomic newborn screening: BabyScreen+ v0.932 TSHB Zornitza Stark Publications for gene: TSHB were set to
Genomic newborn screening: BabyScreen+ v0.931 TSHB Zornitza Stark Tag treatable tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 to Pontocerebellar hypoplasia type 2A MIM#277470
Genomic newborn screening: BabyScreen+ v0.930 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Classified gene: TSEN54 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
Genomic newborn screening: BabyScreen+ v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Genomic newborn screening: BabyScreen+ v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from Cardiac conduction disease to Progressive familial heart block, type IB 604559
Genomic newborn screening: BabyScreen+ v0.925 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRPM4 Zornitza Stark Tag for review tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Marked gene: TRMU as ready
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile to Liver failure, transient infantile MIM# 613070
Genomic newborn screening: BabyScreen+ v0.922 TRMU Zornitza Stark Publications for gene: TRMU were set to
Genomic newborn screening: BabyScreen+ v0.921 TRMU Zornitza Stark Tag treatable tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 28, MIM#609823
Genomic newborn screening: BabyScreen+ v0.920 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism syndrome to Mulibrey nanism MIM#253250
Genomic newborn screening: BabyScreen+ v0.918 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Classified gene: TRIM37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.916 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.916 ENG Zornitza Stark Publications for gene: ENG were set to
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark changed review comment from: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI).

For review.; to: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI). Management guidelines also suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Marked gene: ENG as ready
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Classified gene: ENG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.912 ENG Zornitza Stark reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Marked gene: EMD as ready
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Muscular dystrophy, Emery-Dreifuss to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark Tag for review tag was added to gene: EMD.
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial to Dysautonomia, familial MIM#223900; paediatric medulloblastoma
Genomic newborn screening: BabyScreen+ v0.909 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.908 ELP1 Zornitza Stark Classified gene: ELP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.908 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v1.15 PDGFRB Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34494111; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Marked gene: ELN as ready
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Phenotypes for gene: ELN were changed from Supravalvar aortic stenosis to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Classified gene: ELN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELN Zornitza Stark reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Marked gene: ELANE as ready
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from Neutropenia, congenital, MIM#202700 to Neutropenia, congenital, MIM#202700
Genomic newborn screening: BabyScreen+ v0.904 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253
Genomic newborn screening: BabyScreen+ v0.903 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.902 EGR2 Zornitza Stark Classified gene: EGR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.902 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678, Dejerine-Sottas disease 145900, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis with microcephaly to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
Genomic newborn screening: BabyScreen+ v0.900 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark edited their review of gene: EFL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome type 4A MONDO:0010192; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 4B, MIM# 613265
Genomic newborn screening: BabyScreen+ v0.899 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Marked gene: EDARADD as ready
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Genomic newborn screening: BabyScreen+ v0.898 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD 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
Genomic newborn screening: BabyScreen+ v0.897 EDARADD Zornitza Stark Classified gene: EDARADD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.897 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDARADD Zornitza Stark reviewed gene: EDARADD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Marked gene: EDAR as ready
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Classified gene: EDAR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDAR Zornitza Stark reviewed gene: EDAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Marked gene: EDA as ready
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Classified gene: EDA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Marked gene: DYSF as ready
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Classified gene: DYSF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DYSF Zornitza Stark reviewed gene: DYSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Tag treatable tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.475 SPTBN5 Zornitza Stark Classified gene: SPTBN5 as Red List (low evidence)
Mendeliome v1.475 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Mendeliome v1.474 SPTBN5 Zornitza Stark edited their review of gene: SPTBN5: Added comment: Some of the missense variants are present at high population frequencies, not compatible with Mendelian disease. Gene is tolerant of LoF in gnomad, raising questions about the pathogenicity of the LoF variant.
Commentaries questioning gene-disease relationship PMID: 36117916; 36238261; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.5028 SPTBN5 Zornitza Stark Publications for gene: SPTBN5 were set to 35782384
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Tag disputed tag was added to gene: SPTBN5.
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Classified gene: SPTBN5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5026 SPTBN5 Zornitza Stark reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Mode of inheritance: None
Mendeliome v1.474 MTSS1 Zornitza Stark Mode of inheritance for gene: MTSS1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.473 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.473 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Mendeliome v1.473 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Mendeliome v1.473 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Mendeliome v1.473 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Mendeliome v1.472 MTSS1 Zornitza Stark gene: MTSS1 was added
gene: MTSS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTSS1 were set to 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.

The individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.

Immunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5025 MTSS1 Zornitza Stark reviewed gene: MTSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.3 TPR Zornitza Stark Marked gene: TPR as ready
Ataxia v1.3 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Ataxia v1.3 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark Marked gene: TPR as ready
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Microcephaly v1.170 TPR Zornitza Stark Marked gene: TPR as ready
Microcephaly v1.170 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Microcephaly v1.170 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Microcephaly v1.169 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.169 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Microcephaly v1.169 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Microcephaly v1.169 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Microcephaly v1.169 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Microcephaly v1.168 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Added comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.

The individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.

Immunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies.; Changed rating: GREEN
Microcephaly v1.168 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071)
Microcephaly v1.168 MTSS1 Zornitza Stark reviewed gene: MTSS1: Rating: RED; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.471 TPR Zornitza Stark Phenotypes for gene: TPR were changed from intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149 to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Mendeliome v1.470 TPR Zornitza Stark reviewed gene: TPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.470 TPR Zornitza Stark Marked gene: TPR as ready
Mendeliome v1.470 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Mendeliome v1.470 TPR Zornitza Stark Classified gene: TPR as Red List (low evidence)
Mendeliome v1.470 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark changed review comment from: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature; to: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.

Increased chromosome breakage is a feature.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5023 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Growth failure v1.55 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.55 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.54 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.14 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Mendeliome v1.469 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Mendeliome v1.469 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Mendeliome v1.469 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Mendeliome v1.469 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Mendeliome v1.468 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green
Sources: Literature
Microcephaly v1.168 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Microcephaly v1.168 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Microcephaly v1.168 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Microcephaly v1.168 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Microcephaly v1.167 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Mendeliome v1.467 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Mendeliome v1.467 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Mendeliome v1.467 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Mendeliome v1.467 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Mendeliome v1.466 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.12 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.

Increased chromosome breakage is a feature of this disorder.
Sources: Literature
Growth failure v1.53 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.53 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.52 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5021 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Microcephaly v1.166 SLF2 Zornitza Stark Phenotypes for gene: SLF2 were changed from Atelis syndrome; microcephaly; short stature; ID to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Microcephaly v1.165 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related, Atelis syndrome, microcephaly, short stature, ID
Microcephaly v1.165 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, SLF2-related, Atelis syndrome, microcephaly, short stature, ID
Microcephaly v1.165 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Microcephaly v1.165 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Microcephaly v1.165 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Microcephaly v1.165 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Microcephaly v1.164 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Mendeliome v1.465 TPR Achchuthan Shanmugasundram gene: TPR was added
gene: TPR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149
Review for gene: TPR was set to RED
Added comment: This gene should be added to the following diseases: Intellectual disability, microcephaly and ataxia.

Comment on classification of this gene: This gene should be added with a RED rating as the association is based on biallelic variants identified from a report of two siblings.

Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability.

Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Mendeliome v1.465 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34476477; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975, renovascular hypertension, MONDO:0006947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic newborn screening: BabyScreen+ v0.890 TRIM37 Lilian Downie reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 7735507, PMID: 30586926; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRIOBP Lilian Downie reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16385457, 16385458; Phenotypes: Deafness, autosomal recessive 28 MIM#609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie edited their review of gene: TRMU: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie changed review comment from: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation; to: Established gene disease association
Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie Deleted their comment
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie commented on gene: TRMU: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie reviewed gene: TRMU: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 19732863, PMID: 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRPM4 Lilian Downie reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19726882, PMID: 33381229; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC1 Lilian Downie reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC2 Lilian Downie reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSEN54 Lilian Downie reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHB Lilian Downie reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31166470, PMID: 35102753, MID: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHR Lilian Downie reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8981017, PMID: 20515734; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM, NONAUTOIMMUNE HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CHNG1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSR2 Lilian Downie reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24942156, 11424144; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MIM#300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.890 TTC21B Lilian Downie reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC37 Lilian Downie reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC7A Lilian Downie reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5020 SPTBN5 Chern Lim reviewed gene: SPTBN5: Rating: ; Mode of pathogenicity: Other; Publications: 36117916, 36238261; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.465 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798
Mendeliome v1.464 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Mendeliome v1.464 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Mendeliome v1.463 IRF2BP2 Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765
Predominantly Antibody Deficiency v0.124 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 IRF2BP2 Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765
Intellectual disability syndromic and non-syndromic v0.5020 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Intellectual disability syndromic and non-syndromic v0.5019 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1802 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1801 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.463 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.462 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.462 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mendeliome v1.462 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mendeliome v1.462 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mendeliome v1.461 DUOX2 Zornitza Stark Classified gene: DUOX2 as Green List (high evidence)
Mendeliome v1.461 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.35 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 6, MIM# 607200
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Tag treatable tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.460 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.29 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Predominantly Antibody Deficiency v0.122 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Mendeliome v1.460 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Chromosome Breakage Disorders v1.11 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Genomic newborn screening: BabyScreen+ v0.888 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Phenotypes for gene: DNAJB6 were changed from Muscular dystrophy, limb girdle to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
Genomic newborn screening: BabyScreen+ v0.885 DNAJB6 Zornitza Stark reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Classified gene: DNAI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Classified gene: DNAH5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Classified gene: DNAH11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 13, MIM# 613193
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Classified gene: DNAAF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Marked gene: DMP1 as ready
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Phenotypes for gene: DMP1 were changed from Hypophosphatemic rickets, AR to Hypophosphatemic rickets MIM#241520
Genomic newborn screening: BabyScreen+ v0.875 DMP1 Zornitza Stark reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis, autosomal recessive, 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Genomic newborn screening: BabyScreen+ v0.872 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.871 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.871 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632, Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from Hearing loss to Deafness, autosomal recessive 59, MIM# 610220
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.

Hearing loss is pre-lingual, therefore include.

Treatment: hearing aids/cochlear implant.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from Hearing loss to Deafness, autosomal dominant 5, MIM# 600994
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Classified gene: DFNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark commented on gene: DFNA5: Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.

New HGNC approved name is GSDME.

However, age of onset is typically 11-50, therefore exclude.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 APOB Zornitza Stark Marked gene: APOB as ready
Additional findings_Paediatric v0.274 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.274 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolaemia, familial, 2, MIM# 144010; Hypobetalipoproteinaemia 615558
Additional findings_Paediatric v0.273 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.272 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 2, MIM# 144010, Hypobetalipoproteinaemia 615558; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Skeletal Dysplasia_Fetal v0.201 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Skeletal Dysplasia_Fetal v0.200 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Skeletal Dysplasia_Fetal v0.198 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Skeletal Dysplasia_Fetal v0.197 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800
Skeletal Dysplasia_Fetal v0.195 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Skeletal Dysplasia_Fetal v0.193 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Skeletal Dysplasia_Fetal v0.191 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Skeletal Dysplasia_Fetal v0.189 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Skeletal Dysplasia_Fetal v0.187 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Classified gene: MEOX1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Classified gene: MATN3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Classified gene: LTBP3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Marked gene: GSC as ready
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Classified gene: GSC as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Classified gene: GPC6 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 MEOX1 Krithika Murali gene: MEOX1 was added
gene: MEOX1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEOX1 were set to 24073994; 23290072
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Review for gene: MEOX1 was set to GREEN
Added comment: Review from fetal anomalies panel:

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. 3 families with multiple affected individuals and homozygous variants segregating fully with the disease. meox1cho mutant zebrafish show vertebral fusion, congenital scoliosis and asymmetry of pectoral girdle, which resembles Sprengel's deformity.
Sources: Literature
Fetal anomalies v1.76 MBTPS1 Krithika Murali reviewed gene: MBTPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.177 MBTPS1 Krithika Murali gene: MBTPS1 was added
gene: MBTPS1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Review for gene: MBTPS1 was set to GREEN
Added comment: Review from fetal anomalies panel: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 MATN3 Krithika Murali gene: MATN3 was added
gene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835
Phenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Review for gene: MATN3 was set to GREEN
Added comment: Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LTBP3 Krithika Murali gene: LTBP3 was added
gene: LTBP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LTBP3 were set to PMID: 27068007
Phenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 - MIM#617809
Review for gene: LTBP3 was set to GREEN
Added comment: Antenatal findings of disproportionately restricted length and shortened long bones described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LONP1 Krithika Murali gene: LONP1 was added
gene: LONP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826
Phenotypes for gene: LONP1 were set to CODAS syndrome - MIM#600373
Review for gene: LONP1 was set to GREEN
Added comment: Prenatal identification of shortened long bones reported.
Sources: Literature
Growth failure v1.51 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.51 UBR1 Zornitza Stark Classified gene: UBR1 as Green List (high evidence)
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.50 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, MIM# 243800
Review for gene: UBR1 was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Growth failure v1.49 SBDS Zornitza Stark Marked gene: SBDS as ready
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.49 SBDS Zornitza Stark Classified gene: SBDS as Green List (high evidence)
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.48 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 1, MIM# 260400
Review for gene: SBDS was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.5019 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Genetic Epilepsy v0.1801 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Mendeliome v1.460 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Mendeliome v1.459 CACNA1I Zornitza Stark reviewed gene: CACNA1I: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.459 RPS6KB1 Arina Puzriakova gene: RPS6KB1 was added
gene: RPS6KB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS6KB1 were set to 34916228
Phenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy
Review for gene: RPS6KB1 was set to GREEN
Added comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640)
Sources: Literature
Polydactyly v0.263 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Polydactyly v0.263 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Polydactyly v0.263 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Polydactyly v0.263 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Marked gene: IHH as ready
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Classified gene: IHH as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Classified gene: KIF5B as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.459 HK1 Zornitza Stark Tag deep intronic tag was added to gene: HK1.
Hyperinsulinism v1.3 HK1 Zornitza Stark Tag deep intronic tag was added to gene: HK1.
Mendeliome v1.459 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: PMID 36333503: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571, 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related, Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460
Hyperinsulinism v1.3 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177, HK1-related
Hyperinsulinism v1.2 HK1 Zornitza Stark Publications for gene: HK1 were set to 23859901
Hyperinsulinism v1.1 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Hyperinsulinism v1.1 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hyperinsulinism v1.0 HK1 Zornitza Stark changed review comment from: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; to: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.
Hyperinsulinism v1.0 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; Changed publications: 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.867 PALB2 Zornitza Stark Tag for review was removed from gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.

Keep on Amber list.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Classified gene: SCN8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Gene: scn8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark Tag for review was removed from gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.866 NPC2 Zornitza Stark Tag for review was removed from gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.866 MYO6 Zornitza Stark Tag for review was removed from gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.866 PAX6 Zornitza Stark Tag for review was removed from gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.866 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.866 NBN Zornitza Stark Tag for review was removed from gene: NBN.
Genomic newborn screening: BabyScreen+ v0.866 TYR Zornitza Stark Tag for review was removed from gene: TYR.
Genomic newborn screening: BabyScreen+ v0.866 TYR Zornitza Stark changed review comment from: Treatment is supportive.

For review.; to: Diagnosis is clinical. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Classified gene: APC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Gene: apc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.865 APC Zornitza Stark Tag for review was removed from gene: APC.
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag pharmacogenomic tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark edited their review of gene: LAMA2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark changed review comment from: No specific treatment.; to: No specific treatment.
Succinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag for review was removed from gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 DGUOK Zornitza Stark Tag for review was removed from gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.864 DGUOK Zornitza Stark changed review comment from: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches.

For review.; to: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.

For review.
Genomic newborn screening: BabyScreen+ v0.864 ALAS2 Zornitza Stark Tag for review was removed from gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.864 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark Tag for review was removed from gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available but emboli zing AVMs alters their natural history.

Management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Classified gene: GFPT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark Tag for review was removed from gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Classified gene: GFM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFM1 Zornitza Stark reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Marked gene: GFAP as ready
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Classified gene: GFAP as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.857 GFAP Zornitza Stark Tag for review was removed from gene: GFAP.
Tag clinical trial tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.857 GFAP Zornitza Stark reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark Tag for review was removed from gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark Tag for review was removed from gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Classified gene: UROD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Gene: urod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.854 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Genomic newborn screening: BabyScreen+ v0.853 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Classified gene: DDB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DDB2 Zornitza Stark edited their review of gene: DDB2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung Tag for review tag was added to gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung Tag review tag was added to gene: GFM1.
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung Tag for review tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.851 GDAP1 Alison Yeung reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Marked gene: DMPK as ready
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Classified gene: DMPK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DMPK Zornitza Stark reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark Tag for review tag was added to gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Marked gene: DCX as ready
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Classified gene: DCX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCX Zornitza Stark reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, MIM#603554 to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark Tag treatable tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome to Alport syndrome 1, X-linked, MIM# 301050
Genomic newborn screening: BabyScreen+ v0.845 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.844 COL4A5 Zornitza Stark Tag treatable tag was added to gene: COL4A5.
Genomic newborn screening: BabyScreen+ v0.844 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark Tag for review tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.173 KIF5B Krithika Murali gene: KIF5B was added
gene: KIF5B was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 35342932
Phenotypes for gene: KIF5B were set to Skeletal dysplasia, MONDO:0018230; KIF5B-related; Kyphomelic dysplasia
Review for gene: KIF5B was set to GREEN
Added comment: Following review from fetal anomalies panel:

4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.8 Zornitza Stark List of related panels changed from to HP:0012675
Skeletal Dysplasia_Fetal v0.173 KIAA0753 Krithika Murali gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to PMID: 29138412
Phenotypes for gene: KIAA0753 were set to Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
Review for gene: KIAA0753 was set to GREEN
Added comment: Antenatal diagnosis of short limbs and narrow thorax has been reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 IHH Krithika Murali gene: IHH was added
gene: IHH was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IHH were set to PMID: 22406540
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia - MIM#607778; Brachydactyly, type A1 - MIM#112500
Review for gene: IHH was set to GREEN
Added comment: Antenatal diagnosis of shortened limbs and digital anomalies described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 HHAT Krithika Murali gene: HHAT was added
gene: HHAT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Antenatal diagnosis of the associated skeletal dysplasia features has been reported including micromelia and narrow bell-shaped thorax.
Sources: Literature
Polydactyly v0.262 DHCR7 Krithika Murali gene: DHCR7 was added
gene: DHCR7 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome - MIM#270400
Review for gene: DHCR7 was set to GREEN
Added comment: Biallelic variants associated with SLO, polydactyly a known phenotypic feature.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.7 Bryony Thompson HPO terms changed from Iron accumulation in brain, HP:0012675 to HP:0012675
Neurodegeneration with brain iron accumulation v0.6 Bryony Thompson HPO terms changed from to Iron accumulation in brain, HP:0012675
Muscular dystrophy and myopathy_Paediatric v0.120 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Rasopathy v0.96 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Combined Immunodeficiency v1.29 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital
Bone Marrow Failure v1.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Autism v0.186 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Classified gene: COL5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Genomic newborn screening: BabyScreen+ v0.840 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.839 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.839 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000 EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
Genomic newborn screening: BabyScreen+ v0.837 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Classified gene: TWIST1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Marked gene: TWNK as ready
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Spinocerebellar ataxia infantile-onset to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Genomic newborn screening: BabyScreen+ v0.834 TWNK Zornitza Stark Publications for gene: TWNK were set to
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Classified gene: TWNK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Marked gene: TYMP as ready
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Genomic newborn screening: BabyScreen+ v0.831 TYMP Zornitza Stark Publications for gene: TYMP were set to
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Classified gene: TYMP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Marked gene: TYR as ready
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous 1 to Oculocutaneous albinism type 1 MIM## 203100, # 606952
Genomic newborn screening: BabyScreen+ v0.828 TYR Zornitza Stark Publications for gene: TYR were set to
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark Tag for review tag was added to gene: TYR.
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark Tag treatable tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, type I to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Classified gene: COL5A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
Genomic newborn screening: BabyScreen+ v0.822 COL6A3 Zornitza Stark Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.821 COL6A3 Zornitza Stark Classified gene: COL6A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.821 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Genomic newborn screening: BabyScreen+ v0.819 COL6A2 Zornitza Stark Mode of inheritance for gene: COL6A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.818 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.818 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Genomic newborn screening: BabyScreen+ v0.816 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.815 COL6A1 Zornitza Stark Classified gene: COL6A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.815 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark Tag for review tag was added to gene: COL9A3.
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type VI, MIM# 620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Marked gene: TTPA as ready
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency to Ataxia with isolated vitamin E deficiency MIM#277460
Genomic newborn screening: BabyScreen+ v0.812 TTPA Zornitza Stark Publications for gene: TTPA were set to
Genomic newborn screening: BabyScreen+ v0.811 TTPA Zornitza Stark Tag treatable tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Marked gene: TTR as ready
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210
Genomic newborn screening: BabyScreen+ v0.810 TTR Zornitza Stark Publications for gene: TTR were set to
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Classified gene: TTR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from Acrodysostosis 2, with or without hormone resistance to Acrodysostosis 2, with or without hormone resistance, MIM#614613
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Classified gene: PDE4D as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Marked gene: PCNT as ready
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
Genomic newborn screening: BabyScreen+ v0.802 TTPA Lilian Downie reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 TTR Lilian Downie reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301373, PMID: 3032328, PMID: 29972753, PMID: 29972757; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PDX1 David Amor reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PDE4D David Amor reviewed gene: PDE4D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PCNT David Amor reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PCDH15 David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII to Osteogenesis imperfecta, type VII, MIM# MIM#610682
Genomic newborn screening: BabyScreen+ v0.801 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM# MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.76 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Fetal anomalies v1.75 FRA10AC1 Zornitza Stark reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.47 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Growth failure v1.46 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Intellectual disability syndromic and non-syndromic v0.5018 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Intellectual disability syndromic and non-syndromic v0.5017 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.487 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.486 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Microcephaly v1.163 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Microcephaly v1.162 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Mendeliome v1.459 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Mendeliome v1.458 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Genomic newborn screening: BabyScreen+ v0.801 TWIST1 Lilian Downie reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.801 TWNK Lilian Downie reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16135556,19304794,17921179, 27551684, 12872260, 31823625; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 MIM# 271245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.458 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Mendeliome v1.457 ITPR3 Zornitza Stark Publications for gene: ITPR3 were set to 32949214
Mendeliome v1.456 ITPR3 Zornitza Stark Classified gene: ITPR3 as Green List (high evidence)
Mendeliome v1.456 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Mendeliome v1.455 ITPR3 Zornitza Stark edited their review of gene: ITPR3: Added comment: Additional family with 3 individuals in 2 generations reported in PMID 24627108.; Changed rating: GREEN; Changed publications: 32949214, 24627108; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Mendeliome v1.455 THAP1 Zornitza Stark Publications for gene: THAP1 were set to 21793105; 22377579
Mendeliome v1.454 THAP1 Zornitza Stark Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.173 GSC Krithika Murali gene: GSC was added
gene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSC were set to PMID: 24290375
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471
Review for gene: GSC was set to GREEN
Added comment: Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPX4 Krithika Murali gene: GPX4 was added
gene: GPX4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to PMID: 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220
Review for gene: GPX4 was set to GREEN
Added comment: small thorax, rhizomelic shortening, perinatal lethality described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPC6 Krithika Murali gene: GPC6 was added
gene: GPC6 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 - MIM#258315
Review for gene: GPC6 was set to GREEN
Added comment: Severe congenital micromelia
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.801 TYMP Lilian Downie reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301358, PMID: 33825174, PMID: 32980811, PMID: 26264513, PMID: 19371766; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TYR Lilian Downie reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17980020, PMID: 33599182; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Marked gene: WDR5 as ready
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.801 UBE2T Lilian Downie reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32646888, PMID: 26119737, PMID: 26046368, PMID: 26085575; Phenotypes: Fanconi anemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Classified gene: WDR5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5016 WDR5 Bryony Thompson gene: WDR5 was added
gene: WDR5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related
Mode of pathogenicity for gene: WDR5 was set to Other
Review for gene: WDR5 was set to GREEN
Added comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. 9/11 probands have ID. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established.
Sources: Literature
Mendeliome v1.453 WDR5 Bryony Thompson Marked gene: WDR5 as ready
Mendeliome v1.453 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Mendeliome v1.453 WDR5 Bryony Thompson Classified gene: WDR5 as Green List (high evidence)
Mendeliome v1.453 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Mendeliome v1.452 WDR5 Bryony Thompson gene: WDR5 was added
gene: WDR5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related
Mode of pathogenicity for gene: WDR5 was set to Other
Review for gene: WDR5 was set to GREEN
Added comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established.
Sources: Literature
Mitochondrial disease v0.843 TOMM7 Bryony Thompson Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Mendeliome v1.451 TOMM7 Bryony Thompson edited their review of gene: TOMM7: Changed publications: 36299998
Hereditary Spastic Paraplegia v1.51 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106
Hereditary Spastic Paraplegia v1.50 KPNA3 Zornitza Stark reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.451 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106
Mendeliome v1.450 KPNA3 Zornitza Stark reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5015 JARID2 Zornitza Stark Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Intellectual disability syndromic and non-syndromic v0.5014 JARID2 Zornitza Stark edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Mendeliome v1.450 JARID2 Zornitza Stark Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Mendeliome v1.449 JARID2 Zornitza Stark edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Microcephaly v1.162 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Microcephaly v1.162 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Microcephaly v1.162 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Microcephaly v1.162 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.449 PI4K2A Zornitza Stark Phenotypes for gene: PI4K2A were changed from Cutis laxa, intellectual disability, movement disorder to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Cutis laxa, intellectual disability, movement disorder
Mendeliome v1.448 PI4K2A Zornitza Stark Publications for gene: PI4K2A were set to 32418222
Hypertrophic cardiomyopathy v0.168 DNAJB4 Zornitza Stark Marked gene: DNAJB4 as ready
Hypertrophic cardiomyopathy v0.168 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.168 DNAJB4 Zornitza Stark Classified gene: DNAJB4 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.168 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Red List (Low Evidence).
Mendeliome v1.447 DNAJB4 Zornitza Stark Marked gene: DNAJB4 as ready
Mendeliome v1.447 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Green List (High Evidence).
Mendeliome v1.447 DNAJB4 Zornitza Stark Classified gene: DNAJB4 as Green List (high evidence)
Mendeliome v1.447 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Classified gene: CSF2RA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
Genomic newborn screening: BabyScreen+ v0.799 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 CSF3R Zornitza Stark Tag treatable tag was added to gene: CSF3R.
Genomic newborn screening: BabyScreen+ v0.798 CSF3R Zornitza Stark reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome to Johanson-Blizzard syndrome MIM#243800
Genomic newborn screening: BabyScreen+ v0.797 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Classified gene: UBR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome to Crigler-Najjar syndrome, type I, MIM# 218800
Genomic newborn screening: BabyScreen+ v0.794 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Zornitza Stark Tag treatable tag was added to gene: UGT1A1.
Mendeliome v1.446 DNAJB4 Karina Sandoval gene: DNAJB4 was added
gene: DNAJB4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to PMID: 36264506
Phenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related
Review for gene: DNAJB4 was set to GREEN
Added comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure. One had HCM.

Functional studies including mouse model.
Sources: Literature
Hypertrophic cardiomyopathy v0.167 DNAJB4 Karina Sandoval gene: DNAJB4 was added
gene: DNAJB4 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to PMID: 36264506
Phenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related
Review for gene: DNAJB4 was set to RED
Added comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure.

Only one had HCM.

Functional studies including mouse model.
Sources: Literature
Mendeliome v1.446 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372; 35278131
Mendeliome v1.445 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851, Deafness, autosomal dominant 84 (MIM#619810)
Mendeliome v1.445 ATP11A Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Marked gene: PI4K2A as ready
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Mendeliome v1.445 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Mendeliome v1.445 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Mendeliome v1.444 PI4K2A Seb Lunke reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564627, 35880319, 19581584; Phenotypes: complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Incidentalome v0.219 WNK2 Alison Yeung Marked gene: WNK2 as ready
Incidentalome v0.219 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.219 WNK2 Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence)
Incidentalome v0.219 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.218 WNK2 Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence)
Incidentalome v0.218 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.444 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Mendeliome v1.444 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5013 PI4K2A Seb Lunke gene: PI4K2A was added
gene: PI4K2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 19581584
Phenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516
Review for gene: PI4K2A was set to GREEN
Added comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.

Functional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.

An earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.

in 2011, a Pi4k2a knock-out mouse model was described. "Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts."
Sources: Literature
Mendeliome v1.444 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Mendeliome v1.444 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Microcephaly v1.161 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.486 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.486 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Mendeliome v1.443 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Mendeliome v1.443 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.443 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Mendeliome v1.443 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.442 THAP1 Michelle Torres commented on gene: THAP1: Monoallelic is well established with reduced penetrance.

Biallelic was seen in 3 families generally with severe and early onset dystonia:

PMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness).

PMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected.

PMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.442 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Marked gene: PI4K2A as ready
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Incidentalome v0.217 WNK2 Melanie Marty gene: WNK2 was added
gene: WNK2 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: WNK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK2 were set to PMID: 36270769
Phenotypes for gene: WNK2 were set to Serrated polyposis syndrome
Review for gene: WNK2 was set to AMBER
Added comment: Germline variants identified in 15 patients (14 missense, 1 fs) diagnosed with serrated polyposis syndrome. Limited segregation studies in 2 families (1 sibling in each family). Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway.
Sources: Literature
Mendeliome v1.442 THAP1 Michelle Torres reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36205328, 21425335, 20211909; Phenotypes: Dystonia 6, torsion, (MIM#60262); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.11 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Mendeliome v1.442 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Callosome v0.485 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1798 PI4K2A Seb Lunke gene: PI4K2A was added
gene: PI4K2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 19581584
Phenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516
Review for gene: PI4K2A was set to GREEN
Added comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.

Functional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.

An earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.

in 2011, a Pi4k2a knock-out mouse model was described. "Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts."
Sources: Literature
Mendeliome v1.442 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Mendeliome v1.442 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.442 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Mendeliome v1.442 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.441 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Genetic Epilepsy v0.1797 MYCBP2 Suliman Khan edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from intellectual disability, epilepsy, autistic features and callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1795 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Genetic Epilepsy v0.1795 MYCBP2 Zornitza Stark reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1795 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to intellectual disability, epilepsy, autistic features and callosum abnormalities
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: Sources: Literature
Mendeliome v1.441 FICD Alison Yeung Marked gene: FICD as ready
Mendeliome v1.441 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.441 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Mendeliome v1.441 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.440 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Mendeliome v1.439 METTL23 Lucy Spencer reviewed gene: METTL23: Rating: AMBER; Mode of pathogenicity: None; Publications: 36099048; Phenotypes: glaucoma MONDO:0005041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.5009 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5009 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Suliman Khan edited their review of gene: MYCBP2: Changed phenotypes: intellectual disability, epilepsy, autistic features and callosum abnormalities,
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Zornitza Stark edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Zornitza Stark reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalitie; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5008 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Hereditary Spastic Paraplegia v1.50 FICD Alison Yeung Marked gene: FICD as ready
Hereditary Spastic Paraplegia v1.50 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.50 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Hereditary Spastic Paraplegia v1.50 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.49 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: Sources: Literature
Mendeliome v1.439 FOXI3 Zornitza Stark Marked gene: FOXI3 as ready
Mendeliome v1.439 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mendeliome v1.439 FOXI3 Zornitza Stark Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.438 FOXI3 Zornitza Stark Classified gene: FOXI3 as Green List (high evidence)
Mendeliome v1.438 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Marked gene: FOXI3 as ready
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Phenotypes for gene: FOXI3 were changed from Craniofacial microsomia to Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Mandibulofacial Acrofacial dysostosis v1.3 FOXI3 Zornitza Stark Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v1.2 FOXI3 Zornitza Stark Classified gene: FOXI3 as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v1.2 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mendeliome v1.437 FOXI3 Paul De Fazio gene: FOXI3 was added
gene: FOXI3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Penetrance for gene: FOXI3 were set to Incomplete
Review for gene: FOXI3 was set to GREEN
gene: FOXI3 was marked as current diagnostic
Added comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants.

The missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.

Rated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected.
Sources: Literature
Mandibulofacial Acrofacial dysostosis v1.1 FOXI3 Paul De Fazio edited their review of gene: FOXI3: Changed phenotypes: Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Mandibulofacial Acrofacial dysostosis v1.1 FOXI3 Paul De Fazio gene: FOXI3 was added
gene: FOXI3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to Craniofacial microsomia
Penetrance for gene: FOXI3 were set to Incomplete
Review for gene: FOXI3 was set to GREEN
gene: FOXI3 was marked as current diagnostic
Added comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants.

The missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.

Rated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected.
Sources: Literature
Skeletal dysplasia v0.228 CBFB Ain Roesley Marked gene: CBFB as ready
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.228 CBFB Ain Roesley Classified gene: CBFB as Green List (high evidence)
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mendeliome v1.437 TOMM7 Zornitza Stark Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Skeletal dysplasia v0.227 CBFB Ain Roesley gene: CBFB was added
gene: CBFB was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related
Penetrance for gene: CBFB were set to Complete
Review for gene: CBFB was set to GREEN
gene: CBFB was marked as current diagnostic
Added comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion

In 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood
Sources: Literature
Mendeliome v1.436 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed publications: 36299998, 36282599
Mendeliome v1.436 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.; Changed publications: 36282599
Mitochondrial disease v0.842 TOMM7 Zornitza Stark changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.
Mendeliome v1.436 CBFB Ain Roesley Marked gene: CBFB as ready
Mendeliome v1.436 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mendeliome v1.436 CBFB Ain Roesley Classified gene: CBFB as Green List (high evidence)
Mendeliome v1.436 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed rating: AMBER
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599
Mendeliome v1.435 CBFB Ain Roesley gene: CBFB was added
gene: CBFB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related
Penetrance for gene: CBFB were set to Complete
Review for gene: CBFB was set to GREEN
gene: CBFB was marked as current diagnostic
Added comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion

In 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.793 UBR1 Lilian Downie reviewed gene: UBR1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Classified gene: IMPAD1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Marked gene: FZD2 as ready
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Classified gene: FZD2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Lilian Downie reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26595536, PMID: 29448836; Phenotypes: Crigler-Najjar syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Repeat Disorders v0.151 OPDM4 Bryony Thompson Publications for STR: OPDM4 were set to 35148830
Mendeliome v1.434 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480; Immunodeficiency 108 with autoinflammation, MIM# 260570
Mendeliome v1.433 CEBPE Zornitza Stark Publications for gene: CEBPE were set to 10359588; 11313242; 31256937; 29651288
Mendeliome v1.432 CEBPE Zornitza Stark edited their review of gene: CEBPE: Added comment: Additional family with auto inflammatory phenotype published in 31201888, extensive functional data.; Changed publications: 10359588, 11313242, 31256937, 29651288, 31201888
Mendeliome v1.432 CEBPE Zornitza Stark edited their review of gene: CEBPE: Changed phenotypes: Specific granule deficiency, MIM# 245480, Immunodeficiency 108 with autoinflammation, MIM# 260570
Autoinflammatory Disorders v1.3 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Autoinflammatory syndrome MONDO:0019751, CEBPE-related to Immunodeficiency 108 with autoinflammation , MIM# 260570
Autoinflammatory Disorders v1.2 CEBPE Zornitza Stark edited their review of gene: CEBPE: Changed phenotypes: Immunodeficiency 108 with autoinflammation, MIM# 260570
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Marked gene: CSTB as ready
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Classified gene: CSTB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CSTB Zornitza Stark reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Coats plus syndrome to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Classified gene: CTC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Tag treatable tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 24, MIM# 615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Marked gene: CTSK as ready
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Classified gene: CTSK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CTSK Zornitza Stark reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis - MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.787 CYP27A1 John Christodoulou changed review comment from: treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884); to: Onset of disease can be in infancy childhood, with a case made for newborn screening/genetic testing because of effective treatments being available - PMID: 33630770

treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884)
Genomic newborn screening: BabyScreen+ v0.787 PCBD1 John Christodoulou changed review comment from: is on the current VCGS newborn screening panel; to: is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.

Hyperphenylalaninaemia when present in the newborn is transient. There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence. There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects. See: PMID: 32456656

So, I think we can take this one off the list.
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome to 3-M syndrome 1, MIM# 273750
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Classified gene: CUL7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 1, MIM# 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.432 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Marked gene: CYBA as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Tag treatable tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Marked gene: CYBB as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Tag treatable tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.783 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Marked gene: MMAB as ready
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Marked gene: IVD as ready
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Marked gene: GBA as ready
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Phenotypes for gene: GBA were changed from Gaucher disease 1 to Gaucher disease type 1, MIM#230800
Genomic newborn screening: BabyScreen+ v0.782 GBA Zornitza Stark Tag treatable tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Classified gene: CREBBP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.780 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta, type II to Osteogenesis imperfecta, type II , MIM#166210
Genomic newborn screening: BabyScreen+ v0.779 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type II , MIM#166210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I, MIM#166200
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark Tag treatable tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I MIM#166200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type to Epidermolysis bullosa, junctional 4, intermediate MIM#619787
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Classified gene: COL17A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Marked gene: PHYH as ready
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Classified gene: PHYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHYH Zornitza Stark Tag treatable tag was added to gene: PHYH.
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease IXc, MIM# 613027
Genomic newborn screening: BabyScreen+ v0.773 PHKG2 Zornitza Stark Tag treatable tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Marked gene: PHKB as ready
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
Genomic newborn screening: BabyScreen+ v0.771 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease, type IXa1 and a2, MIM# 306000
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Tag treatable tag was added to gene: PHGDH.
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Rhabdomyolysis and Metabolic Myopathy v0.90 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Mendeliome v1.432 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Glycogen Storage Diseases v1.1 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Congenital Disorders of Glycosylation v1.28 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Marked gene: PFKM as ready
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease 7 to Glycogen storage disease VII (MIM#232800)
Genomic newborn screening: BabyScreen+ v0.769 PFKM Zornitza Stark Publications for gene: PFKM were set to
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Classified gene: PFKM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata; Refsum disease to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Classified gene: PEX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Classified gene: PEX26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Classified gene: PEX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Classified gene: PEX12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.749 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.749 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.749 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Classified gene: GNPTAB as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia to Aniridia, OMIM 106210
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark Tag for review tag was added to gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PALB2 Zornitza Stark Tag for review tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Classified gene: PAK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.741 P2RY12 Zornitza Stark Classified gene: P2RY12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.741 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Classified gene: PEX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Marked gene: PDHX as ready
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349
Genomic newborn screening: BabyScreen+ v0.737 PDHX Zornitza Stark Publications for gene: PDHX were set to
Genomic newborn screening: BabyScreen+ v0.736 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase deficiency to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Genomic newborn screening: BabyScreen+ v0.735 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.734 PDHA1 Zornitza Stark commented on gene: PDHA1: To be reported in females.
Genomic newborn screening: BabyScreen+ v0.734 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Marked gene: PC as ready
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150
Genomic newborn screening: BabyScreen+ v0.733 PC Zornitza Stark Publications for gene: PC were set to
Genomic newborn screening: BabyScreen+ v0.732 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Genomic newborn screening: BabyScreen+ v0.731 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Genomic newborn screening: BabyScreen+ v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
Callosome v0.485 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Callosome v0.485 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Callosome v0.485 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Callosome v0.484 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Callosome v0.484 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.728 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.728 CLN6 Zornitza Stark Tag for review was removed from gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.728 CLN5 Zornitza Stark Tag for review was removed from gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.728 CLN3 Zornitza Stark Tag for review was removed from gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.728 ADAR Zornitza Stark commented on gene: ADAR: To be discussed further with neurology.
Genomic newborn screening: BabyScreen+ v0.728 UROD John Christodoulou reviewed gene: UROD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24175354; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.728 VHL Zornitza Stark Publications for gene: VHL were set to 20301636; 33945366; 34613603
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark Tag for review was removed from gene: VHL.
Tag treatable tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark edited their review of gene: VHL: Changed publications: 28620007
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Marked gene: UROD as ready
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic to Porphyria, hepatoerythropoietic MIM#176100
Genomic newborn screening: BabyScreen+ v0.726 UROD Zornitza Stark Publications for gene: UROD were set to
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.725 SI Zornitza Stark Tag for review was removed from gene: SI.
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Classified gene: SFTPC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Gene: sftpc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.724 SFTPC Zornitza Stark Tag for review was removed from gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Classified gene: SCN3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Gene: scn3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.723 SCN3A Zornitza Stark Tag for review was removed from gene: SCN3A.
Tag treatable was removed from gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.723 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Classified gene: SCN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Gene: scn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.722 SCN2A Zornitza Stark Tag for review was removed from gene: SCN2A.
Tag treatable was removed from gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.722 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Classified gene: SCN1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Gene: scn1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.721 SCN1A Zornitza Stark Tag for review was removed from gene: SCN1A.
Tag treatable was removed from gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.721 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.

For review; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Tag for review was removed from gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Deleted their comment
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark Tag for review was removed from gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark changed review comment from: For review: check treatment available locally; to: For review: check treatment available locally. Done.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark changed review comment from: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?; to: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?

Panel review: screen for bi-allelic disease only.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821
Genomic newborn screening: BabyScreen+ v0.720 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.432 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Mendeliome v1.431 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Green List (high evidence)
Mendeliome v1.431 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Green List (High Evidence).
Mendeliome v1.430 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Added comment: Additional 3 families reported with mono-allelic variants.; Changed rating: GREEN; Changed publications: 31601679, 30854216, 28869238, 26792177, 32855221
Pulmonary Fibrosis_Interstitial Lung Disease v0.47 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 GNPTAB Krithika Murali gene: GNPTAB was added
gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 20301728
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500
Review for gene: GNPTAB was set to GREEN
Added comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies.
Sources: Literature
Mendeliome v1.430 GNPNAT1 Krithika Murali reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.226 GNPNAT1 Krithika Murali reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.163 GNPNAT1 Krithika Murali gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Review for gene: GNPNAT1 was set to AMBER
Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 SFTPA1 Tiong Tan reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32855221; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAX6 David Amor reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia, OMIM 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PAX3 David Amor reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PANK2 David Amor reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PALB2 David Amor reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAK3 David Amor reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300558, Intellectual developmental disorder, X-linked 30; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.719 P2RY12 David Amor reviewed gene: P2RY12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 609821, Bleeding disorder, platelet-type, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHYH John Christodoulou reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances, cerebellar ataxia, anosmia, progressive hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKG2 John Christodoulou reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246, https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: hepatomegaly, hypotonia, growth retardation, hypoglycaemia, fasting ketosis, cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKB John Christodoulou reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKA2 John Christodoulou reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 PHGDH John Christodoulou reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: growth retardation, congenital microcephaly, hypogonadism, hypertonia, severe ID, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PGM1 John Christodoulou reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32681750; Phenotypes: cleft lip, bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, exercise intolerance, increased serum creatine kinase, rhabdomyolysis, dilated cardiomyopathy, hypogonadotropic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PFKM John Christodoulou reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 7550225; Phenotypes: rhabdomyolysis, myopathy, exercise intolerance, gout, haemolysis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX7 John Christodoulou reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX6 John Christodoulou reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX5 John Christodoulou reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX3 John Christodoulou reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX26 John Christodoulou reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX2 John Christodoulou reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX13 John Christodoulou reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX12 John Christodoulou reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX10 John Christodoulou reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX1 John Christodoulou reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHX John Christodoulou reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20002125, PMID: 33092611; Phenotypes: ID, hypotonia, lactic acidosis, seizures, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHA1 John Christodoulou reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: lactic acidosis, porencephaly, ID, seizures, dystonia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 PC John Christodoulou reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAX8 John Christodoulou reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 OXCT1 John Christodoulou reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594, PMID: 20652411; Phenotypes: ketoacidosis, hypoglycaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 OTC John Christodoulou reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 NPC2 John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 NPC1 John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MPI John Christodoulou reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MLYCD John Christodoulou reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28781843, PMID: 20549361; Phenotypes: hypoglycaemia, metabolic acidosis, cardiomyopathy, ID, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MAN2B1 John Christodoulou reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.483 MYCBP2 Suliman Khan changed review comment from: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature; to: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Callosome v0.483 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile to Sialic acid storage disorder, infantile, MIM# 269920
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Classified gene: SLC17A5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Marked gene: SLC16A2 as ready
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Classified gene: SLC16A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Added comment: Comment on list classification: Not eligible now but have to check back on trial later
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke Tag clinical trial tag was added to gene: SLC16A2.
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy to Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Classified gene: SLC12A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Marked gene: SLC12A3 as ready
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome to Gitelman syndrome, MIM# 263800
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Classified gene: SLC12A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke Tag for review tag was added to gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Marked gene: SLC12A1 as ready
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Gene: slc12a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Phenotypes for gene: SLC12A1 were changed from Bartter syndrome to Bartter syndrome, type 1, MIM# 601678
Genomic newborn screening: BabyScreen+ v0.710 SLC12A1 Seb Lunke reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Marked gene: SKI as ready
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Classified gene: SKI as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SKI Seb Lunke reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Marked gene: SIX3 as ready
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX3 Seb Lunke reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Marked gene: SIX1 as ready
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Phenotypes for gene: SIX1 were changed from Branchiootorenal syndrome to Branchiootic syndrome 3, MIM# 608389
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Classified gene: SIX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIX1 Seb Lunke reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Marked gene: SIL1 as ready
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, MIM#248800
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Classified gene: SIL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SIL1 Seb Lunke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Marked gene: SI as ready
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Gene: si has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Tag for review tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Marked gene: SHH as ready
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Classified gene: SHH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHH Seb Lunke reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Marked gene: SHANK3 as ready
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Classified gene: SHANK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SHANK3 Seb Lunke reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Marked gene: SH3TC2 as ready
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Classified gene: SH3TC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH3TC2 Seb Lunke reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.430 SCNM1 Zornitza Stark Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107
Polydactyly v0.262 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Polydactyly v0.262 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Polydactyly v0.262 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Polydactyly v0.262 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.429 SCNM1 Zornitza Stark reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.261 SCNM1 Zornitza Stark gene: SCNM1 was added
gene: SCNM1 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to 36084634
Phenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, MIM# 620107
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous - the missense variant was shown to have a splice outcome
Sources: Literature
Ciliopathies v1.37 SCNM1 Zornitza Stark Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107
Ciliopathies v1.36 SCNM1 Zornitza Stark reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v1.2 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Ataxia v1.1 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Intellectual disability syndromic and non-syndromic v0.5008 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Intellectual disability syndromic and non-syndromic v0.5007 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1795 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1794 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Mendeliome v1.429 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Mendeliome v1.428 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Pneumothorax v0.11 Bryony Thompson Panel status changed from internal to public
Pneumothorax v0.10 CFTR Bryony Thompson Marked gene: CFTR as ready
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.10 CFTR Bryony Thompson Classified gene: CFTR as Green List (high evidence)
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.9 CFTR Bryony Thompson gene: CFTR was added
gene: CFTR was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFTR were set to 30681372; 17056865; 16100160; 2919902
Phenotypes for gene: CFTR were set to Cystic fibrosis MONDO:0009061
Review for gene: CFTR was set to GREEN
gene: CFTR was marked as current diagnostic
Added comment: Has been reported as one of the lung finds of CF. The incidence of pneumothorax among patients with CF has been reported as ~2% in children and ~3% in all ages.
Sources: Expert list
Pneumothorax v0.8 FBLN5 Bryony Thompson Marked gene: FBLN5 as ready
Pneumothorax v0.8 FBLN5 Bryony Thompson Gene: fbln5 has been classified as Red List (Low Evidence).
Pneumothorax v0.8 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN5 were set to 21152794; 30681372
Phenotypes for gene: FBLN5 were set to cutis laxa MONDO:0016175
Review for gene: FBLN5 was set to RED
Added comment: Spontaneous pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single cutis laxa case with biallelic variants and a previous history of spontaneous pneumothorax has been reported.
Sources: Other
Pneumothorax v0.7 LTBP4 Bryony Thompson Marked gene: LTBP4 as ready
Pneumothorax v0.7 LTBP4 Bryony Thompson Gene: ltbp4 has been classified as Red List (Low Evidence).
Pneumothorax v0.7 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP4 were set to 30681372; 35921570
Phenotypes for gene: LTBP4 were set to Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170
Review for gene: LTBP4 was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature.
Sources: Other
Skeletal Dysplasia_Fetal v0.163 FZD2 Krithika Murali gene: FZD2 was added
gene: FZD2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469, 30455931, 29383834, 29230162,
Phenotypes for gene: FZD2 were set to Omodysplasia 2, OMIM #164745
Review for gene: FZD2 was set to GREEN
Added comment: Previous review by Chirag Patel Fetal anomalies panel 13.1.22

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Skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel.
Sources: Literature
Pneumothorax v0.6 ELN Bryony Thompson Marked gene: ELN as ready
Pneumothorax v0.6 ELN Bryony Thompson Gene: eln has been classified as Red List (Low Evidence).
Pneumothorax v0.6 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELN were set to 30416599; 30681372
Phenotypes for gene: ELN were set to cutis laxa, autosomal dominant 1 MONDO:0007411
Mode of pathogenicity for gene: ELN was set to Other
Review for gene: ELN was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant.
Sources: Other
Skeletal Dysplasia_Fetal v0.163 FIG4 Krithika Murali gene: FIG4 was added
gene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 31094135; 24088667; 23623387
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340
Review for gene: FIG4 was set to GREEN
Added comment: Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures.
Sources: Literature
Pneumothorax v0.5 CBS Bryony Thompson Marked gene: CBS as ready
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.5 CBS Bryony Thompson Classified gene: CBS as Amber List (moderate evidence)
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.4 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 2333882; 27229674; 9427154; 30681372
Phenotypes for gene: CBS were set to Classic homocystinuria MONDO:0009352
Review for gene: CBS was set to AMBER
Added comment: The prevalence of spontaneous pneumothorax as a feature of homocystinuria is unknown. It appears to be very rare. There are 3 unrelated patients reported in the literature, one presented with spontaneous pneumothorax.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Marked gene: SH2D1A as ready
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Gene: sh2d1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Phenotypes for gene: SH2D1A were changed from Lymphoproliferative syndrome, MIM#308240 to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Genomic newborn screening: BabyScreen+ v0.696 SH2D1A Seb Lunke Publications for gene: SH2D1A were set to
Genomic newborn screening: BabyScreen+ v0.695 SH2D1A Seb Lunke reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Marked gene: SGSH as ready
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Classified gene: SGSH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGSH Seb Lunke reviewed gene: SGSH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Marked gene: SGCB as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Marked gene: SGCG as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Marked gene: SGCD as ready
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.692 SGCG Seb Lunke Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Classified gene: SGCB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Classified gene: SGCD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Classified gene: SGCG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCG Seb Lunke reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCD Seb Lunke reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCB Seb Lunke reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Marked gene: SGCA as ready
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Classified gene: SGCA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.686 SGCA Seb Lunke reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Skeletal Dysplasia_Fetal v0.162 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Skeletal Dysplasia_Fetal v0.161 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271
Skeletal Dysplasia_Fetal v0.159 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Skeletal Dysplasia_Fetal v0.158 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.163 SOCS1 Zornitza Stark Publications for gene: SOCS1 were set to 33087723
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Classified gene: FGFR1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Mendeliome v1.428 FGL2 Zornitza Stark Marked gene: FGL2 as ready
Mendeliome v1.428 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.428 FGL2 Zornitza Stark Classified gene: FGL2 as Amber List (moderate evidence)
Mendeliome v1.428 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.427 FGL2 Zornitza Stark gene: FGL2 was added
gene: FGL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to 36243222
Phenotypes for gene: FGL2 were set to Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Review for gene: FGL2 was set to AMBER
Added comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis. Homozygous truncating variant, functional studies include rescue experiments.
Sources: Literature
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Marked gene: FGL2 as ready
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Phenotypes for gene: FGL2 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Classified gene: FGL2 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark commented on gene: FGL2: Homozygous truncating variant, functional studies include rescue experiments.
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark edited their review of gene: FGL2: Changed rating: AMBER
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark reviewed gene: FGL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, FGL2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pneumothorax v0.3 Zornitza Stark List of related panels changed from to Pneumothorax; HP:0002107
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.160 SOCS1 Peter McNaughton reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35976468; Phenotypes: Early onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali Deleted their comment
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali edited their review of gene: FGFR1: Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.; Changed publications: PMID: 16470795, PMID: 15625620, PMID: 29147600, PMID: 20339250
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali changed review comment from: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature; to: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali gene: FGFR1 was added
gene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250
Review for gene: FGFR1 was set to GREEN
Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Disorders of immune dysregulation v0.160 FGL2 Peter McNaughton gene: FGL2 was added
gene: FGL2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to PMID: 36243222
Phenotypes for gene: FGL2 were set to Immune dysregulation
Review for gene: FGL2 was set to RED
Added comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data
Sources: Literature
Pneumothorax v0.1 Bryony Thompson HPO terms changed from to Pneumothorax, HP:0002107
Panel types changed to Royal Melbourne Hospital; Rare Disease
Pneumothorax v0.0 SMAD3 Bryony Thompson gene: SMAD3 was added
gene: SMAD3 was added to Pneumothorax. Sources: Expert list,Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: SMAD3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax v0.0 SMAD2 Bryony Thompson gene: SMAD2 was added
gene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954
Mode of pathogenicity for gene: SMAD2 was set to Other
Pneumothorax v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC2 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pneumothorax v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690
Pneumothorax v0.0 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax v0.0 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884
Phenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax v0.0 TGFB3 Bryony Thompson gene: TGFB3 was added
gene: TGFB3 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884
Phenotypes for gene: TGFB3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pneumothorax v0.0 TGFB2 Bryony Thompson gene: TGFB2 was added
gene: TGFB2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, OMIM:614816; Pulmonary emphysema, MONDO:0004849
Pneumothorax v0.0 SERPINA1 Bryony Thompson gene: SERPINA1 was added
gene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490
Pneumothorax v0.0 FLCN Bryony Thompson gene: FLCN was added
gene: FLCN was added to Pneumothorax. Sources: Literature,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,NHS GMS,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19483054; 15852235; 26928018; 15657874; 21550484; 15805188; 12204536
Phenotypes for gene: FLCN were set to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Pneumothorax. Sources: Eligibility statement prior genetic testing,Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN1 were set to 12598898; 1864149; 11786720; 2595640; 15161620; 25765122
Phenotypes for gene: FBN1 were set to Marfan syndrome, OMIM:154700
Pneumothorax v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Pneumothorax v0.0 Bryony Thompson Added panel Pneumothorax
Amelogenesis imperfecta v1.5 SP6 Zornitza Stark Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104
Amelogenesis imperfecta v1.4 SP6 Zornitza Stark edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.426 SP6 Zornitza Stark Phenotypes for gene: SP6 were changed from hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.425 SP6 Zornitza Stark edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.425 FKBP6 Zornitza Stark Phenotypes for gene: FKBP6 were changed from Spermatogenic failure (MONDO:0004983), FKBP6-related to Spermatogenic failure 77, MIM# 620103
Mendeliome v1.424 FKBP6 Zornitza Stark reviewed gene: FKBP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 77, MIM# 620103; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.154 EXTL3 Krithika Murali gene: EXTL3 was added
gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to PMID: 28132690
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Review for gene: EXTL3 was set to GREEN
Added comment: Disproportionate short stature with limb shortening and death in the neonatal period reported.
Sources: Literature
Congenital Myasthenia v1.10 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Mendeliome v1.424 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Classified gene: COL11A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark edited their review of gene: COL11A2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706
Genomic newborn screening: BabyScreen+ v0.684 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Classified gene: COL11A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 53, MIM# 609706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark Tag for review tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Marked gene: COG5 as ready
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from Congenital disorder of glycosylation, type IIi to Congenital disorder of glycosylation, type IIi, MIM# 613612
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Classified gene: COG5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.679 COG5 Zornitza Stark reviewed gene: COG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22105173, 26513235; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34363755, PMID: 22851595; Phenotypes: Autoinflammation, susceptibility to HSV; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34448086; Phenotypes: Susceptibility to viral disease, interferonopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Immunodeficiency 31C, autosomal dominant, MIM# 614162, Predisposition to Mucocutaneous Candidiasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 TMC8 Peter McNaughton reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 CXCR4 Peter McNaughton reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Marked gene: TLR3 as ready
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Gene: tlr3 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Phenotypes for gene: TLR3 were changed from to {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002
Susceptibility to Viral Infections v0.105 TLR3 Zornitza Stark Publications for gene: TLR3 were set to
Susceptibility to Viral Infections v0.104 TLR3 Zornitza Stark Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.103 TLR3 Zornitza Stark reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Tag treatable tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 84B, MIM# 614944
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark Tag for review tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Marked gene: OTOF as ready
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 9, MIM#601071
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Marked gene: OTOA as ready
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 22, MIM#607039
Genomic newborn screening: BabyScreen+ v0.676 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Marked gene: OTC as ready
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM#311250
Intellectual disability syndromic and non-syndromic v0.5006 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5005 OTC Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency, MIM#311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5005 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Mendeliome v1.424 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Marked gene: OTC as ready
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 5, MIM#259720
Genomic newborn screening: BabyScreen+ v0.675 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Classified gene: OSTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Susceptibility to Viral Infections v0.102 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark edited their review of gene: TICAM1: Added comment: Two each with bi-allelic and mono-allelic variants (total of 4 patients), plus functional data.; Changed publications: 22105173, 26513235
Susceptibility to Viral Infections v0.101 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23391734, PMID: 34448086; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Susceptibility to Viral Infections v0.99 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Susceptibility to Viral Infections v0.98 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.97 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.673 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia gravis.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Marked gene: UMOD as ready
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from Nephropathy to Tubulointerstitial kidney disease MIM#162000
Genomic newborn screening: BabyScreen+ v0.672 UMOD Zornitza Stark Publications for gene: UMOD were set to
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Classified gene: UMOD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Susceptibility to Viral Infections v0.96 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Susceptibility to Viral Infections v0.94 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa v0.130 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Retinitis pigmentosa v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.130 RAX2 Zornitza Stark Classified gene: RAX2 as Green List (high evidence)
Retinitis pigmentosa v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.129 RAX2 Zornitza Stark gene: RAX2 was added
gene: RAX2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: RAX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX2 were set to 30607024
Phenotypes for gene: RAX2 were set to Retinitis pigmentosa-95 (RP95), MIM#620102
Review for gene: RAX2 was set to GREEN
Added comment: 6 individuals from 5 families reported.
Sources: Literature
Mendeliome v1.424 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11, MIM# 610381 to Cone-rod dystrophy 11, MIM# 610381; Retinitis pigmentosa-95 (RP95), MIM#620102
Mendeliome v1.423 RAX2 Zornitza Stark edited their review of gene: RAX2: Changed phenotypes: Cone-rod dystrophy 11, MIM# 610381, Retinitis pigmentosa-95 (RP95), MIM#620102
Ataxia v1.1 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Ataxia v1.0 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5005 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Intellectual disability syndromic and non-syndromic v0.5004 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.150 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.842 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mitochondrial disease v0.841 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1794 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Regression v0.509 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1793 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.11 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Regression v0.509 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.508 LETM1 Zornitza Stark gene: LETM1 was added
gene: LETM1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Review for gene: LETM1 was set to GREEN
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components

Around half had regression.
Sources: Expert Review
Mendeliome v1.423 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mendeliome v1.422 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OXCT1 David Amor reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594; Phenotypes: 245050, Succinyl CoA:3-oxoacid CoA transferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOGL David Amor reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 614944, Deafness, autosomal recessive 84B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOF David Amor reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 601071, Auditory neuropathy, autosomal recessive, 1, AND Deafness, autosomal recessive 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor changed review comment from: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: symptomatic only therefore exclude; to: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: HA, CI.
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor reviewed gene: OTOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 607039, Deafness, autosomal recessive 22; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTC David Amor reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 311250 Ornithine transcarbamylase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.670 OSTM1 David Amor reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34011644; Phenotypes: 259720 Osteopetrosis, autosomal recessive 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.94 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.93 TBK1 Zornitza Stark reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Hereditary predisposition to infections, MONDO:0015979, TBK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.160 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Mendeliome v1.422 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Genomic newborn screening: BabyScreen+ v0.669 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.669 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.669 SFTPC Zornitza Stark Tag for review tag was added to gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.669 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Classified gene: DVL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Classified gene: DVL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Heyn-Sproul-Jackson syndrome, MIM# 618724
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Classified gene: DNMT3A as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Heyn-Sproul-Jackson syndrome, MIM# 618724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.422 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Mendeliome v1.422 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Mendeliome v1.421 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Monogenic Diabetes v0.32 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.30 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Hypertrophic cardiomyopathy v0.167 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288
Genomic newborn screening: BabyScreen+ v0.669 CDH23 Zornitza Stark Tag for review was removed from gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Classified gene: MEN1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Gene: men1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Classified gene: MEN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Gene: men1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark changed review comment from: For review re age of onset; to: For review re age of onset: surveillance starts age 5, disease onset generally later.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark edited their review of gene: MEN1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.667 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Tag treatable tag was added to gene: MEFV.
Susceptibility to Viral Infections v0.93 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 22105173; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.667 MEFV Zornitza Stark changed review comment from: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

For review.; to: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

Reviewed: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from Infantile spasms to Nephrotic syndrome, type 15, MIM# 617609
Genomic newborn screening: BabyScreen+ v0.666 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.665 MAGI2 Zornitza Stark Classified gene: MAGI2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.665 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.664 MAGI2 Zornitza Stark Tag for review was removed from gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.664 LRP5 Zornitza Stark Tag for review was removed from gene: LRP5.
Susceptibility to Viral Infections v0.93 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Susceptibility to mycobacterial disease, severe viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.664 LRP5 Zornitza Stark changed review comment from: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review.; to: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark Tag for review was removed from gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark changed review comment from: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT.; to: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT: include, uncertain if pre-symptomatic BMT may have better outcomes than currently reported.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark Tag for review was removed from gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark changed review comment from: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis

Predominantly neonatal onset.
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Classified gene: LRP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.663 LRP4 Zornitza Stark Tag for review was removed from gene: LRP4.
Susceptibility to Viral Infections v0.93 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22851595; Phenotypes: Susceptibility to herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.663 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.662 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.

Include bi-allelic disease in gNBS. Continue considering if and when mono-allelic disease should be included.
Genomic newborn screening: BabyScreen+ v0.662 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.662 L1CAM Zornitza Stark Tag for review was removed from gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.662 G6PD Zornitza Stark Tag review was removed from gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Congenital heart defects to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark Tag for review was removed from gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark Tag for review was removed from gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

For discussion. Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,; to: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark Tag for review was removed from gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

For review.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Classified gene: COQ8B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Gene: coq8b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark changed review comment from: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset; to: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset -- predominantly later onset, so not included
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark edited their review of gene: COQ8B: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.660 UMOD Lilian Downie reviewed gene: UMOD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301530; Phenotypes: Tubulointerstitial kidney disease MIM#162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.660 UNC13D Lilian Downie reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301617; Phenotypes: Hemophagocytic lymphohistiocytosis MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 UROD Lilian Downie reviewed gene: UROD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24175354, PMID: 17360334; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Marked gene: COCH as ready
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal recessive 110, MIM# 618094
Genomic newborn screening: BabyScreen+ v0.659 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.658 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from Achromatopsia-3 to Achromatopsia 3, MIM# 262300
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Classified gene: CNGB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.656 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.656 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A to Usher syndrome, type 3A, MIM# 276902
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Classified gene: CLRN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.655 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Marked gene: CLPP as ready
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement to Deafness, autosomal recessive 116 MIM#619093
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Classified gene: CLDN19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from Hearing loss, non-syndromic, autosomal recessive to Deafness, autosomal recessive 29, MIM# 614035
Genomic newborn screening: BabyScreen+ v0.651 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Mendeliome v1.421 CLCN7 Zornitza Stark changed review comment from: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.; to: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Mono- and bi-allelic variants in this gene are associated with osteopetrosis.
Mendeliome v1.421 CLCN7 Zornitza Stark edited their review of gene: CLCN7: Changed phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal dominant 2, MIM# 166600, Osteopetrosis, autosomal recessive 4, MIM# 611490
Skeletal dysplasia v0.225 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.224 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Skeletal dysplasia v0.223 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.222 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Marked gene: SFTPC as ready
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Gene: sftpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.651 SFTPC Seb Lunke Phenotypes for gene: SFTPC were changed from Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Osteopetrosis v0.29 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Osteopetrosis v0.29 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Osteopetrosis v0.29 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Osteopetrosis, autosomal recessive 4, MIM#611490
Osteopetrosis v0.28 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Osteopetrosis v0.27 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.26 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.650 SFTPC Seb Lunke reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.421 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.650 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.650 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss MIM#617236
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Classified gene: CEP78 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.649 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark changed review comment from: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason.; to: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason, unlikely to be detected by the newborn hearing screening program.
Genomic newborn screening: BabyScreen+ v0.648 CEP78 Zornitza Stark reviewed gene: CEP78: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Marked gene: SFTPB as ready
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.648 SFTPB Seb Lunke Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Classified gene: SFTPB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.647 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SFTPB Seb Lunke reviewed gene: SFTPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Marked gene: SETX as ready
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.646 SETX Seb Lunke Phenotypes for gene: SETX were changed from Ataxia-ocular apraxia 2 to Spinocerebellar ataxia, autosomal recessive 1, 606002
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Classified gene: SETX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.645 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETX Seb Lunke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 1, 606002; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.644 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from Schinzel-Giedion syndrome to Schinzel-Giedion midface retraction syndrome, MIM# 269150
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Classified gene: SETBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.643 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 SETBP1 Seb Lunke reviewed gene: SETBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.642 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease to Dent disease, MIM#300009
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Classified gene: CLCN5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.641 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Marked gene: CHM as ready
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.640 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideraemia MIM#303100
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Classified gene: CHM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.639 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.150 DVL3 Krithika Murali gene: DVL3 was added
gene: DVL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 25577943
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3-MIM#616894
Review for gene: DVL3 was set to GREEN
Added comment: Detection of short stature antenatally and mesomelia at birth reported.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Marked gene: CHKB as ready
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.638 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Classified gene: CHKB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.637 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHKB Zornitza Stark reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.150 DVL1 Krithika Murali gene: DVL1 was added
gene: DVL1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Review for gene: DVL1 was set to GREEN
gene: DVL1 was marked as current diagnostic
Added comment: Previous review by Belinda Chong:

Onset at birth - Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly . Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2.

Only variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com), however reports so far have been for de novo variants.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.636 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Classified gene: CHD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.635 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Marked gene: CFP as ready
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFP Zornitza Stark reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.634 CFL2 Zornitza Stark Phenotypes for gene: CFL2 were changed from Nemaline myopathy to Nemaline myopathy 7, autosomal recessive, MIM# 610687
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.633 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.632 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.150 DNMT3A Krithika Murali gene: DNMT3A was added
gene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Review for gene: DNMT3A was set to AMBER
Added comment: Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.

The primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Marked gene: SERPINA1 as ready
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.632 SERPINA1 Seb Lunke Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Classified gene: SERPINA1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.631 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke Tag for review tag was added to gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.630 SERPINA1 Seb Lunke reviewed gene: SERPINA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.630 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Congenital heart defects to Heterotaxy, visceral, 2, autosomal MIM#605376
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.629 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 2, autosomal MIM#605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Classified gene: CEP83 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.627 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.627 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.626 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.625 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Marked gene: SELENON as ready
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.625 SELENON Seb Lunke Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion to Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Genomic newborn screening: BabyScreen+ v0.624 SELENON Seb Lunke Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.623 SELENON Seb Lunke Classified gene: SELENON as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.623 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.622 SELENON Seb Lunke reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.421 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.30 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.166 FHOD3 Chern Lim reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32335906, 33586461, 30442288, 28991257; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Marked gene: TBCE as ready
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from Combined immune deficiency with syndromic features to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.26 TBCE Zornitza Stark reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Marked gene: VCP as ready
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.622 VCP Zornitza Stark Phenotypes for gene: VCP were changed from Inclusion body myopathy with early-onset paget disease and frontotemporal dementia to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Genomic newborn screening: BabyScreen+ v0.621 VCP Zornitza Stark Publications for gene: VCP were set to
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Classified gene: VCP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.620 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.619 VCP Zornitza Stark reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Marked gene: VDR as ready
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.619 VDR Zornitza Stark Phenotypes for gene: VDR were changed from Vitamin D-dependent rickets to Rickets, vitamin D-resistant, type IIA MIM#277440
Genomic newborn screening: BabyScreen+ v0.618 VDR Zornitza Stark Publications for gene: VDR were set to
Genomic newborn screening: BabyScreen+ v0.617 VDR Zornitza Stark Tag treatable tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Marked gene: VHL as ready
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.617 VHL Zornitza Stark Publications for gene: VHL were set to
Genomic newborn screening: BabyScreen+ v0.616 VHL Zornitza Stark Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome MIM#193300
Genomic newborn screening: BabyScreen+ v0.615 VHL Zornitza Stark Tag for review tag was added to gene: VHL.
Aortopathy_Connective Tissue Disorders v1.73 LTBP3 Zornitza Stark Classified gene: LTBP3 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.73 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
Cardiomyopathy_Paediatric v0.141 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Cardiomyopathy_Paediatric v0.140 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Classified gene: LDB3 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.138 LDB3 Zornitza Stark reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.37 CLCN5 Zornitza Stark Classified gene: CLCN5 as Green List (high evidence)
Hypophosphataemia or rickets v0.37 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Classified gene: DHCR24 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark changed review comment from: Uncertain whether it would present antenatally predominantly with the skeletal findings.; to: Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies.
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Desmosterolosis - MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.615 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome to Microcephaly 9, primary, autosomal recessive, MIM# 614852; Seckel syndrome 5, MIM# 613823
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.614 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.613 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, Seckel syndrome 5, MIM# 613823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Marked gene: CDSN as ready
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.612 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300
Genomic newborn screening: BabyScreen+ v0.611 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.610 CDSN Zornitza Stark Classified gene: CDSN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.610 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDSN Zornitza Stark reviewed gene: CDSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 1 MIM#270300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.609 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from Epileptic encephalopathy, early infantile, 2 to Epileptic encephalopathy, early infantile, 2, MIM 300672
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Classified gene: CDKL5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.608 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.607 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark edited their review of gene: CDH23: Changed phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067)
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.607 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Deafness, autosomal recessive; Usher syndrome, type 1D to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark Tag for review tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.606 CDH23 Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.606 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 UROS Lilian Downie reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027798; Phenotypes: Porphyria, congenital erythropoietic MIM#263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1C Lilian Downie reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH1G Lilian Downie reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 USH2A Lilian Downie reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301515, PMID: 36041150 , PMID: 34331125; Phenotypes: Usher Syndrome Type II MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Downie edited their review of gene: VCAN: Changed rating: GREEN; Changed publications: PMID: 16043844, PMID: 20301747
Genomic newborn screening: BabyScreen+ v0.606 VCAN Lilian Downie reviewed gene: VCAN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 GBA Alison Yeung reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease type 1, MIM#230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.358 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association
Onset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung Tag for review tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.606 GATA4 Alison Yeung reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.606 G6PD Alison Yeung Tag review tag was added to gene: G6PD.
Combined Immunodeficiency v1.26 TBCE Peter McNaughton gene: TBCE was added
gene: TBCE was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PMID: 36258138
Phenotypes for gene: TBCE were set to Combined immune deficiency with syndromic features
Review for gene: TBCE was set to GREEN
Added comment: Patients frequently display impaired mitogen responses, T cell-dependent antibody responses, and reduced frequencies of CD4 + and CD8 + effector memory of CD4 + and CD8 + TEMRA and naive B cells, with an increased proportion of CD21lowCD27- B-cell populations.
They suffer from varied bacterial infections in spite of amoxicillin prophylaxis and display opportunistic viral and fungal infections.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5004 HNRNPH1 Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1 ‐related syndromic intellectual disability to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
Intellectual disability syndromic and non-syndromic v0.5003 HNRNPH1 Zornitza Stark reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.421 HNRNPH1 Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384 to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
Mendeliome v1.420 HNRNPH1 Zornitza Stark edited their review of gene: HNRNPH1: Changed phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.606 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
Genomic newborn screening: BabyScreen+ v0.605 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 DDR2 Zornitza Stark edited their review of gene: DDR2: Added comment: AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder.

No specific treatment for either.; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175
Genomic newborn screening: BabyScreen+ v0.604 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
Skeletal Dysplasia_Fetal v0.148 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Skeletal Dysplasia_Fetal v0.147 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 VCP Lilian Downie reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16247064, PMID: 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.604 VDR Lilian Downie reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32596195, PMID: 31926093, PMID: 32049653; Phenotypes: Rickets, vitamin D-resistant, type IIA MIM#277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.604 VHL Lilian Downie reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301636, PMID: 33945366, PMID: 34613603; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Cardiomyopathy_Paediatric v0.137 CDH2 Zornitza Stark Publications for gene: CDH2 were set to
Cardiomyopathy_Paediatric v0.136 CDH2 Zornitza Stark Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.

Some presented in adolescence.
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28280076; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.64 Zornitza Stark removed gene:CHD2 from the panel
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.62 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Review for gene: CDH2 was set to AMBER
Added comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Mendeliome v1.420 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to 23768516; 29367541; 34915728; 31965688; 29367541
Mendeliome v1.419 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Mendeliome v1.419 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.14 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.72 LTBP3 Krithika Murali changed review comment from: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.

Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.; to: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.

Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.
Aortopathy_Connective Tissue Disorders v1.72 LTBP3 Krithika Murali reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34906192; Phenotypes: Dental anomalies and short stature - MIM#601216, thoracic aortic aneurysms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.134 LDB3 Suliman Khan reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: pediatric dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.418 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v1.12 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Intellectual disability syndromic and non-syndromic v0.5002 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Intellectual disability syndromic and non-syndromic v0.5001 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5000 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 22729223, 35665751, 34354878, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Marked gene: CD79B as ready
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Phenotypes for gene: CD79B were changed from to Agammaglobulinaemia 6, MIM# 612692
Predominantly Antibody Deficiency v0.121 CD79B Zornitza Stark Publications for gene: CD79B were set to
Predominantly Antibody Deficiency v0.120 CD79B Zornitza Stark Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark edited their review of gene: CD79B: Changed publications: 17709424, 17675462, 33733381, 24722855
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 6, MIM# 612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Mendeliome v1.418 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Marked gene: CD79B as ready
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.604 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Classified gene: RRAS2 as Green List (high evidence)
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.292 RRAS2 Zornitza Stark gene: RRAS2 was added
gene: RRAS2 was added to Hydrops fetalis. Sources: Expert Review
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to 33686258; 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Established Rasopathy gene; identified in hydrops cohort PMID 33686258.
Sources: Expert Review
Hypophosphataemia or rickets v0.36 CLCN5 Krithika Murali reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v1.418 WNK4 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Hypertension and Aldosterone disorders v1.5 WNK4 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Skeletal Dysplasia_Fetal v0.146 DHCR24 Krithika Murali gene: DHCR24 was added
gene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to PMID: 21671375
Phenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398
Review for gene: DHCR24 was set to GREEN
Added comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described.
Sources: Literature, Expert list
Predominantly Antibody Deficiency v0.119 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Mendeliome v1.418 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Marked gene: CD79A as ready
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark changed review comment from: At least 5 unrelated families.

Presents in infancy.

Treatment: immunoglobulin replacement.; to: At least 5 unrelated families.

Presents in infancy with severe recurrent infections.

Treatment: immunoglobulin replacement.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.603 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.26 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Mendeliome v1.418 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.603 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.602 CD40LG Zornitza Stark reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Combined Immunodeficiency v1.0 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Mendeliome v1.418 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Marked gene: CD3E as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3E Zornitza Stark reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v1.0 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Mendeliome v1.418 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Marked gene: CD3D as ready
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.602 CD3D Zornitza Stark reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Marked gene: CTSK as ready
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Classified gene: CUL7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Marked gene: FBXW11 as ready
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Classified gene: FBXW11 as Red List (low evidence)
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.0 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disorder MONDO:0019751, FBXW11-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.602 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404
Genomic newborn screening: BabyScreen+ v0.601 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.600 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.599 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.599 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.598 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.597 VPS13A Zornitza Stark Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.595 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Classified gene: VPS13B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.594 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.593 ARSA Zornitza Stark Publications for gene: ARSA were set to
Genomic newborn screening: BabyScreen+ v0.592 ARSA Zornitza Stark Tag for review was removed from gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Marked gene: GCK as ready
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.592 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.591 GCK Zornitza Stark reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Marked gene: G6PC as ready
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.591 G6PC Zornitza Stark Publications for gene: G6PC were set to
Mendeliome v1.418 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Glycogen Storage Diseases v1.1 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.590 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.590 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000
Genomic newborn screening: BabyScreen+ v0.589 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Genomic newborn screening: BabyScreen+ v0.588 FUCA1 Zornitza Stark Tag for review tag was added to gene: FUCA1.
Tag treatable tag was added to gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.588 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VIPAS39 Lilian Downie reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35761207; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VLDLR Lilian Downie reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VPS13A Lilian Downie reviewed gene: VPS13A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.588 VPS13B Lilian Downie reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.0 FBXW11 Peter McNaughton gene: FBXW11 was added
gene: FBXW11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to PMID: 36250618
Phenotypes for gene: FBXW11 were set to Autoinflammation
Review for gene: FBXW11 was set to RED
Added comment: Single patient with autoinflammatory disorder characterised by recurrent periodic fever and severe headaches. Functional studies showing increased NF-kB phosphorylation, increased p65 phosphorylation and increased IL-1B production.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.588 ARSA John Christodoulou reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25987178, PMID: 23348427, PMID: 33195324; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.137 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm
Hereditary Neuropathy v0.136 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm
Mendeliome v1.418 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from peripheral neuropathy to Neuronopathy, distal hereditary motor, type X, MIM# 620080
Mendeliome v1.417 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.417 EMILIN1 Zornitza Stark reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5000 TMEM147 Zornitza Stark Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075
Intellectual disability syndromic and non-syndromic v0.4999 TMEM147 Zornitza Stark reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.417 TMEM147 Zornitza Stark Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075
Mendeliome v1.416 TMEM147 Zornitza Stark reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.143 CYP26B1 Krithika Murali gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to PMID: 22019272
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: Fetal death in utero reported in this condition which is associated with prominent craniofacial malformations. Prenatal shortening of the upper and lower limbs with pronounced angulation also described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali changed review comment from: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list; to: Severe prenatal growth restriction and shortened long bones described.

Prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.

Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali gene: CUL7 was added
gene: CUL7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUL7 were set to 20301654; 26850509; 17675530
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 - MIM#273750; Yakut short stature syndrome
Review for gene: CUL7 was set to GREEN
Added comment: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.588 BSCL2 Alison Yeung commented on gene: BSCL2
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung changed review comment from: note: metreleptin available in Australia under the label of Atacand; to: note: metreleptin is available under trade name of Myalept in USA and soon to be available in Australia
Skeletal Dysplasia_Fetal v0.143 CTSK Krithika Murali gene: CTSK was added
gene: CTSK was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to PMID: 33151655
Phenotypes for gene: CTSK were set to Pycnodysostosis - MIM#265800
Review for gene: CTSK was set to GREEN
Added comment: ~30% with prenatal onset short-limbed short stature
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.588 CAVIN1 Alison Yeung commented on gene: CAVIN1
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.588 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.587 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark Tag for review was removed from gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.587 CYP11A1 Zornitza Stark changed review comment from: Well established gene-disease association. Congenital onset.

For review: should we include mono-allelic variants?; to: Well established gene-disease association. Congenital onset.

Mono-allelic variants discussed: a single family reported only. Does not meet criteria for inclusion. MOI set to bi-allelic.
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Classified gene: COQ7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.587 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.586 COQ7 Zornitza Stark changed review comment from: Four families reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: Four families reported only.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited.
Genomic newborn screening: BabyScreen+ v0.586 COQ7 Zornitza Stark edited their review of gene: COQ7: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.586 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.585 CBS Zornitza Stark changed review comment from: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability, for review.; to: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability: downgraded to Amber for now.
Genomic newborn screening: BabyScreen+ v0.585 CBS Zornitza Stark edited their review of gene: CBS: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.585 CAVIN1 Zornitza Stark Tag for review was removed from gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.585 BSCL2 Zornitza Stark Tag for review was removed from gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Marked gene: BCHE as ready
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark Tag for review was removed from gene: BCHE.
Tag pharmacogenomic tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark changed review comment from: Well established gene-disease association.

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

For review.; to: Well established gene-disease association.

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

Group review: preventative intervention available by placing alerts in medical records.
Genomic newborn screening: BabyScreen+ v0.585 BCHE Zornitza Stark edited their review of gene: BCHE: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark Tag for review was removed from gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.
Genomic newborn screening: BabyScreen+ v0.585 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.585 ATP7A Zornitza Stark Tag for review was removed from gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V1B1 Zornitza Stark Tag for review was removed from gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.585 ATP6V0A4 Zornitza Stark Tag for review was removed from gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.585 AMN Zornitza Stark Tag for review was removed from gene: AMN.
Genomic newborn screening: BabyScreen+ v0.585 AKR1D1 Zornitza Stark Tag for review was removed from gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.585 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.585 AGXT Zornitza Stark Tag for review was removed from gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.585 ABCD1 Zornitza Stark Tag for review was removed from gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.585 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
Genomic newborn screening: BabyScreen+ v0.585 AAAS Zornitza Stark Tag for review was removed from gene: AAAS.
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.584 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v1.6 Zornitza Stark List of related panels changed from to Albinism HP:0001022
Pituitary hormone deficiency v0.30 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v1.416 CCDC34 Zornitza Stark Marked gene: CCDC34 as ready
Mendeliome v1.416 CCDC34 Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence).
Mendeliome v1.416 CCDC34 Zornitza Stark Classified gene: CCDC34 as Green List (high evidence)
Mendeliome v1.416 CCDC34 Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence).
Mendeliome v1.415 CCDC34 Zornitza Stark gene: CCDC34 was added
gene: CCDC34 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC34 were set to 34348960
Phenotypes for gene: CCDC34 were set to Spermatogenic failure 76, MIM# 620084
Review for gene: CCDC34 was set to GREEN
Added comment: Two unrelated individuals reported with homozygous frameshift variants. Mouse model recapitulated phenotype.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.584 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 Zornitza Stark Tag for review tag was added to gene: FLAD1.
Tag treatable tag was added to gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.414 ACTN2 Bryony Thompson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17097056, 20022194, 25173926, 25224718, 22767232, 27287556, 28436997, 31333075, 31956495, 32973354, 34802252, 33500567, 36078153, 36116040; Phenotypes: intrinsic cardiomyopathy MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.583 GCK John Christodoulou reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 G6PC John Christodoulou reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 FUCA1 John Christodoulou reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 FLAD1 John Christodoulou reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.583 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Classified gene: CCDC40 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.582 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.581 CCDC40 Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.581 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Classified gene: CCDC39 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.580 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.579 CCDC39 Zornitza Stark reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.579 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.578 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.119 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Lipodystrophy_Lipoatrophy v1.7 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Mendeliome v1.414 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.577 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 to Lipodystrophy, congenital generalized, type 4, MIM# 613327
Genomic newborn screening: BabyScreen+ v0.576 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark Tag for review tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.575 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.575 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Caveolinopathy; Muscular dystrophy, limb-girdle, type IC to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Classified gene: CAV3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.574 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.414 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Mendeliome v1.413 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Mendeliome v1.412 NFAT5 Zornitza Stark Classified gene: NFAT5 as Amber List (moderate evidence)
Mendeliome v1.412 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.411 NFAT5 Zornitza Stark edited their review of gene: NFAT5: Added comment: Two additional individuals with missense variants reported in PMID 36238298: one with EBV infection with hepatitis and enterocolitis, and one with fatal HLH.; Changed rating: AMBER; Changed publications: 25667416, 36238298; Changed phenotypes: Immune deficiency disease, MONDO:0003778, NFAT5-related, Recurrent infections, Autoimmune enterocolopathy, EBV susceptibility, HLH
Disorders of immune dysregulation v0.160 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Disorders of immune dysregulation v0.159 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Classified gene: NFAT5 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Marked gene: COG1 as ready
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Classified gene: COG1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.157 NFAT5 Peter McNaughton reviewed gene: NFAT5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36238298; Phenotypes: EBV susceptibility, HLH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.142 COG1 Krithika Murali gene: COG1 was added
gene: COG1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 16537452; 19008299; 17904886; 11980916; 18462449
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg - MIM#611209
Review for gene: COG1 was set to AMBER
Added comment: IUGR known feature - but disproportionate impact on length and rhizomelia only reported in the literature in early infancy rather than prenatally.
Sources: Expert list, Literature
Cutis Laxa v1.0 Zornitza Stark promoted panel to version 1.0
Intellectual disability syndromic and non-syndromic v0.4999 PSMC1 Zornitza Stark Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Intellectual disability syndromic and non-syndromic v0.4998 PSMC1 Zornitza Stark reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.411 PSMC1 Zornitza Stark Phenotypes for gene: PSMC1 were changed from 35861243; spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Mendeliome v1.410 PSMC1 Zornitza Stark edited their review of gene: PSMC1: Changed phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Publications for gene: SLC2A10 were set to
Cutis Laxa v0.25 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Cutis Laxa v0.25 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Cutis Laxa v0.25 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Cutis Laxa v0.24 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Cutis Laxa v0.24 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Cutis Laxa v0.24 PYCR1 Zornitza Stark Publications for gene: PYCR1 were set to
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Cutis Laxa v0.22 PTDSS1 Zornitza Stark Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cutis Laxa v0.21 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Cutis Laxa v0.21 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Cutis Laxa v0.21 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Cutis Laxa v0.20 GORAB Zornitza Stark Marked gene: GORAB as ready
Cutis Laxa v0.20 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Cutis Laxa v0.20 GORAB Zornitza Stark Publications for gene: GORAB were set to
Cutis Laxa v0.19 ELN Zornitza Stark Marked gene: ELN as ready
Cutis Laxa v0.19 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Cutis Laxa v0.19 ELN Zornitza Stark Publications for gene: ELN were set to
Cutis Laxa v0.18 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Cutis Laxa v0.16 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Cutis Laxa v0.16 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Cutis Laxa v0.16 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome MIM#304150 to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cutis Laxa v0.13 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150 to Cutis laxa, autosomal dominant 3 (MIM# 616603); Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Cutis Laxa v0.12 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Cutis Laxa v0.11 Zornitza Stark List of related panels changed from to Cutis laxa HP:0000973
Craniosynostosis v1.41 Zornitza Stark List of related panels changed from to Craniosynostosis HP:0001363
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Marked gene: RORC as ready
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622
Defects of intrinsic and innate immunity v0.125 RORC Zornitza Stark Publications for gene: RORC were set to
Defects of intrinsic and innate immunity v0.124 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 RORC Zornitza Stark reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Marked gene: CYBB as ready
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400
Defects of intrinsic and innate immunity v0.122 CYBB Zornitza Stark Publications for gene: CYBB were set to
Defects of intrinsic and innate immunity v0.121 CYBB Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670
Defects of intrinsic and innate immunity v0.119 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Defects of intrinsic and innate immunity v0.118 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Marked gene: CABP4 as ready
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Congenital Stationary Night Blindness v0.20 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620, 33369259; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Marked gene: CFB as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924
Atypical Haemolytic Uraemic Syndrome_MPGN v0.45 CFB Zornitza Stark Publications for gene: CFB were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.44 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 CFB Zornitza Stark reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33725982, 33273796, 33126970, 31242818; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Marked gene: C3 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Phenotypes for gene: C3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Atypical Haemolytic Uraemic Syndrome_MPGN v0.42 C3 Zornitza Stark Publications for gene: C3 were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.41 C3 Zornitza Stark Mode of inheritance for gene: C3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 C3 Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18796626, 34248927, 33691638; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v1.11 Zornitza Stark List of related panels changed from to Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409
Hyperthyroidism v0.20 Zornitza Stark List of related panels changed from to Hyperthyroidism HP:0000836
Proteinuria v0.213 Zornitza Stark List of related panels changed from to Proteinuria HP:0000093
Autoinflammatory Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Autoinflammatory Disorders v0.189 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Autoinflammatory Disorders v0.188 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark commented on gene: TRNT1: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

> 10 families reported.
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark edited their review of gene: TRNT1: Changed publications: 25193871, 23553769, 29170023, 27389523
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Autoinflammatory Disorders v0.186 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Autoinflammatory Disorders v0.185 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark edited their review of gene: SLC29A3: Changed publications: 18940313, 19336477, 22238637
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark commented on gene: SLC29A3: The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID).

Multiple families reported.
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Autoinflammatory Disorders v0.183 PLCG2 Zornitza Stark Publications for gene: PLCG2 were set to
Autoinflammatory Disorders v0.182 PLCG2 Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 PLCG2 Zornitza Stark reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31853824, 32671674, 22236196; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Marked gene: NLRP3 as ready
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115
Autoinflammatory Disorders v0.180 NLRP3 Zornitza Stark Publications for gene: NLRP3 were set to
Autoinflammatory Disorders v0.179 NLRP3 Zornitza Stark Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 NLRP3 Zornitza Stark reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12032915, 12483741, 28847925, 11687797; Phenotypes: Familial cold inflammatory syndrome 1, MIM# 120100, Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772, CINCA syndrome, MIM#12032915 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Marked gene: IL36RN as ready
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from to Psoriasis 14, pustular, MIM# 614204
Autoinflammatory Disorders v0.177 IL36RN Zornitza Stark Publications for gene: IL36RN were set to
Autoinflammatory Disorders v0.176 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 IL36RN Zornitza Stark reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21848462, 21839423, 22903787; Phenotypes: Psoriasis 14, pustular, MIM# 614204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Marked gene: ELANE as ready
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropenia, cyclic MIM#162800
Autoinflammatory Disorders v0.174 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, cyclic MIM#162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Psoriasis 2, MIM# 602723
Autoinflammatory Disorders v0.172 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Autoinflammatory Disorders v0.171 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 34118208, 31286971, 30783801; Phenotypes: Psoriasis 2, MIM# 602723; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Autoinflammatory Disorders v0.169 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Autoinflammatory Disorders v0.168 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 Zornitza Stark List of related panels changed from to Fever HP:0001945
Movement Disorders Superpanel v1.214 Zornitza Stark List of related panels changed from to Tremor HP:0001337
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48 Zornitza Stark List of related panels changed from to Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206
Vascular Malformations_Somatic v1.8 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Vascular Malformations_Germline v1.10 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Genetic Epilepsy v0.1793 GBA Zornitza Stark Marked gene: GBA as ready
Genetic Epilepsy v0.1793 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1793 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005
Genetic Epilepsy v0.1792 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380
Genetic Epilepsy v0.1790 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to 11704758; 12325082; 12707859; 14694060; 15136689; 18263758; 25843247; 25761052
Genetic Epilepsy v0.1789 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to
Genetic Epilepsy v0.1788 EIF2B5 Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1787 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1786 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Genetic Epilepsy v0.1785 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 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)
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genetic Epilepsy v0.1783 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genetic Epilepsy v0.1782 CLN8 Zornitza Stark Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Genetic Epilepsy v0.1780 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Genetic Epilepsy v0.1779 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1778 CLN3 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype of this progressive neurometabolic disorder.
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM#612285
Genetic Epilepsy v0.1777 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Genetic Epilepsy v0.1776 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1775 CC2D2A Zornitza Stark commented on gene: CC2D2A: Seizures are a feature particularly of JBTS.
Genetic Epilepsy v0.1775 CASK Zornitza Stark Marked gene: CASK as ready
Genetic Epilepsy v0.1775 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1775 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Genetic Epilepsy v0.1774 CASK Zornitza Stark Publications for gene: CASK were set to
Genetic Epilepsy v0.1773 CASK Zornitza Stark Mode of inheritance for gene: CASK 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)
Genetic Epilepsy v0.1772 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Marked gene: CBL as ready
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.573 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Classified gene: CBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.572 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CBL Zornitza Stark reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.571 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Genomic newborn screening: BabyScreen+ v0.570 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.569 CASQ2 Zornitza Stark Classified gene: CASQ2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.569 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 CASQ2 Zornitza Stark Tag treatable tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.568 CASQ2 Zornitza Stark Tag for review tag was added to gene: CASQ2.
Tag treatable tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.568 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Marked gene: CASK as ready
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.568 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Genomic newborn screening: BabyScreen+ v0.567 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.566 CASK Zornitza Stark Classified gene: CASK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.566 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.565 CASK Zornitza Stark reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.565 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM# 615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Genomic newborn screening: BabyScreen+ v0.564 CARD11 Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.564 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.563 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.562 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.26 CA2 Zornitza Stark Marked gene: CA2 as ready
Osteopetrosis v0.26 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Osteopetrosis v0.26 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Osteopetrosis v0.25 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.24 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.410 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Marked gene: CA2 as ready
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.562 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.561 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.561 CAPN3 Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Classified gene: CAPN3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.560 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.559 CAPN3 Zornitza Stark reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.559 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Night blindness, congenital stationary (complete), 1A, X-linked to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Classified gene: CACNA1F as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.558 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.557 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.556 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.555 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.222 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076
Skeletal dysplasia v0.221 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bent bone dysplasia syndrome 2, MIM# 620076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.410 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay to Bent bone dysplasia syndrome 2, MIM# 620076; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay
Mendeliome v1.409 LAMA5 Zornitza Stark edited their review of gene: LAMA5: Changed phenotypes: Nephrotic syndrome, type 26 620049, Bent bone dysplasia syndrome 2, MIM# 620076
Intellectual disability syndromic and non-syndromic v0.4998 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures; dysmorphic features to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Intellectual disability syndromic and non-syndromic v0.4997 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1772 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1771 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.409 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.408 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.408 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.407 FGF14 Zornitza Stark edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Marked gene: FGF14 as ready
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Gene: fgf14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Intellectual disability syndromic and non-syndromic v0.4996 FGF14 Zornitza Stark Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4995 FGF14 Zornitza Stark edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.407 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227 to Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.406 FGF14 Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Classified gene: CHST3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.555 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000
Genomic newborn screening: BabyScreen+ v0.554 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.553 SDHD Zornitza Stark reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Mendeliome v1.406 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.553 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.553 SCN8A Zornitza Stark Tag for review tag was added to gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark Tag treatable tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ v0.553 GATA3 Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.157 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Mendeliome v1.406 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Bone Marrow Failure v1.23 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.553 GATA2 Zornitza Stark Publications for gene: GATA2 were set to PMID: 25397911, 30047422
Genomic newborn screening: BabyScreen+ v0.552 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Marked gene: GAN as ready
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.552 GAN Zornitza Stark Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.551 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.24 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Dystonia and Chorea v0.217 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Intellectual disability syndromic and non-syndromic v0.4995 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Regression v0.507 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Marked gene: GAMT as ready
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Genetic Epilepsy v0.1770 GAMT Zornitza Stark Publications for gene: GAMT were set to
Genetic Epilepsy v0.1769 GAMT Zornitza Stark Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1768 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Mendeliome v1.406 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Marked gene: GAMT as ready
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.550 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Marked gene: GALNS as ready
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Skeletal dysplasia v0.221 GALNS Zornitza Stark Marked gene: GALNS as ready
Skeletal dysplasia v0.221 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Skeletal dysplasia v0.221 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Skeletal dysplasia v0.220 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Lysosomal Storage Disorder v1.7 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Mendeliome v1.406 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Hydrops fetalis v0.291 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.550 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000
Genomic newborn screening: BabyScreen+ v0.549 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Marked gene: GALC as ready
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.549 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200
Genomic newborn screening: BabyScreen+ v0.548 GALC Zornitza Stark Tag treatable tag was added to gene: GALC.
Mendeliome v1.406 IMPA1 Bryony Thompson Marked gene: IMPA1 as ready
Mendeliome v1.406 IMPA1 Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.406 IMPA1 Bryony Thompson Classified gene: IMPA1 as Amber List (moderate evidence)
Mendeliome v1.406 IMPA1 Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.405 IMPA1 Bryony Thompson gene: IMPA1 was added
gene: IMPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IMPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPA1 were set to 26416544; 24554717; 32839513; 17460611
Phenotypes for gene: IMPA1 were set to intellectual disability, autosomal recessive 59 MONDO:0015020
Review for gene: IMPA1 was set to AMBER
Added comment: A homozygous frameshift variant identified in a large Brazilian consanguineous family with ID, also supporting functional studies and null mouse models.
Sources: Literature
Skeletal Dysplasia_Fetal v0.140 CHST3 Krithika Murali gene: CHST3 was added
gene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 15368507; 17618475
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095
Review for gene: CHST3 was set to GREEN
Added comment: Severe short stature of prenatal onset with disproportionately shortened limbs.
Sources: Literature, Expert list
Mendeliome v1.404 ARNT2 Bryony Thompson Marked gene: ARNT2 as ready
Mendeliome v1.404 ARNT2 Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.404 ARNT2 Bryony Thompson Classified gene: ARNT2 as Amber List (moderate evidence)
Mendeliome v1.404 ARNT2 Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.403 ARNT2 Bryony Thompson gene: ARNT2 was added
gene: ARNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 11381139; 24022475
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome MONDO:0014404
Review for gene: ARNT2 was set to AMBER
Added comment: A homozygous frameshift (c.1373_1374dupTC) in six affected children from a highly consanguineous family with a syndromic phenotype including microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. In a Arnt2(-/-) mouse model embryos die perinatally and exhibit impaired hypothalamic development.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Marked gene: SDHD as ready
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.548 SDHD Seb Lunke Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Genomic newborn screening: BabyScreen+ v0.547 SDHD Seb Lunke Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.546 SDHD Seb Lunke Classified gene: SDHD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.546 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 SDHD Seb Lunke reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Marked gene: C9 as ready
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Gene: c9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark Tag treatable tag was added to gene: C9.
Skeletal Dysplasia_Fetal v0.140 CCDC8 Krithika Murali gene: CCDC8 was added
gene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205
Review for gene: CCDC8 was set to GREEN
Added comment: Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth.
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.545 C9 Zornitza Stark reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Marked gene: C8B as ready
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark Gene: c8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8B Zornitza Stark reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Marked gene: C8A as ready
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Classified gene: C8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C8A Zornitza Stark reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Marked gene: C7 as ready
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Gene: c7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark Tag treatable tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.544 C7 Zornitza Stark reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Developmental and epileptic encephalopathy 42, MIM# 617106
Genetic Epilepsy v0.1767 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Genetic Epilepsy v0.1766 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Classified gene: CACNA1A as Green List (high evidence)
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Classified gene: CACNA1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Added comment: Comment when marking as ready: Seizures are part of the phenotype.
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Genetic Epilepsy v0.1760 C12orf57 Zornitza Stark Publications for gene: C12orf57 were set to
Genetic Epilepsy v0.1759 C12orf57 Zornitza Stark Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1758 BTD Zornitza Stark Marked gene: BTD as ready
Genetic Epilepsy v0.1758 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1758 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Genetic Epilepsy v0.1757 BTD Zornitza Stark Publications for gene: BTD were set to
Genetic Epilepsy v0.1756 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Genetic Epilepsy v0.1754 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Genetic Epilepsy v0.1753 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genetic Epilepsy v0.1751 BCS1L Zornitza Stark Publications for gene: BCS1L were set to 24172246; 17314340; 9545407
Genetic Epilepsy v0.1750 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Marked gene: SCO2 as ready
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.544 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Classified gene: SCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.543 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCO2 Seb Lunke reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1749 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Genetic Epilepsy v0.1747 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Genetic Epilepsy v0.1746 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1745 BCKDHB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, seizures are part of the phenotype.
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Marked gene: SCNN1B as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1B Seb Lunke reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Marked gene: SCNN1A as ready
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Gene: scnn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.542 SCNN1A Seb Lunke Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v0.541 SCNN1A Seb Lunke reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Marked gene: SCN8A as ready
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke Gene: scn8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 SCN8A Seb Lunke reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.0 Bryony Thompson promoted panel to version 1.0
Ataxia v0.349 NPC1 Bryony Thompson Marked gene: NPC1 as ready
Ataxia v0.349 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia v0.349 NPC1 Bryony Thompson Publications for gene: NPC1 were set to
Ataxia v0.348 NPC1 Bryony Thompson reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10480349, 17003072, 25497598, 33228797; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early-onset Dementia v0.158 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Early-onset Dementia v0.158 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Early-onset Dementia v0.158 ITM2B Bryony Thompson Phenotypes for gene: ITM2B were changed from to Cerebral amyloid angiopathy MONDO:0005620
Early-onset Dementia v0.157 ITM2B Bryony Thompson Publications for gene: ITM2B were set to
Early-onset Dementia v0.156 ITM2B Bryony Thompson Mode of inheritance for gene: ITM2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.155 ITM2B Bryony Thompson reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 20385796, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.541 GATA3 Alison Yeung reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GATA2 Alison Yeung reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.541 GAN Alison Yeung reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GAMT Alison Yeung reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GALNS Alison Yeung reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 GALC Alison Yeung reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.348 HARS Bryony Thompson edited their review of gene: HARS: Changed publications: 32333447
Growth failure v1.46 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072
Growth failure v1.45 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4995 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072
Intellectual disability syndromic and non-syndromic v0.4994 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.402 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v1.5 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Bone Marrow Failure v1.23 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Bone Marrow Failure v1.22 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.72 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Mendeliome v1.402 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Marked gene: C6 as ready
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark Gene: c6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 C6 Zornitza Stark reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Marked gene: FH as ready
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark Tag treatable tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.541 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FBP1 Zornitza Stark reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v1.19 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cardiomyopathy_Paediatric v0.134 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hereditary Neuropathy v0.136 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Mendeliome v1.402 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hypophosphataemia or rickets v0.36 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cholestasis v0.237 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Marked gene: FAH as ready
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.541 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4994 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Regression v0.507 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mitochondrial disease v0.841 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genetic Epilepsy v0.1745 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mendeliome v1.402 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Fatty Acid Oxidation Defects v1.8 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy.; to: Well established gene-disease association.

Onset in infancy. Typically high mortality.
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Genetic Epilepsy v0.1744 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Genetic Epilepsy v0.1743 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1742 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1741 BCKDHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Marked gene: ATRX as ready
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Genetic Epilepsy v0.1740 ATRX Zornitza Stark Mode of inheritance for gene: ATRX 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)
Genetic Epilepsy v0.1739 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.140 IMPAD1 Krithika Murali gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 34989141
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078
Review for gene: IMPAD1 was set to GREEN
Added comment: Disproportionately shortened length prenatally with shortened limbs described.
Sources: Expert list, Literature
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Phenotypes for gene: ATP6AP2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Genetic Epilepsy v0.1738 ATP6AP2 Zornitza Stark Publications for gene: ATP6AP2 were set to
Genetic Epilepsy v0.1737 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from Other to Other
Skeletal Dysplasia_Fetal v0.140 B4GALT7 Krithika Murali gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 31278392
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070
Review for gene: B4GALT7 was set to GREEN
Added comment: Perinatal lethal skeletal dysplasia described
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 B3GLCT Krithika Murali gene: B3GLCT was added
gene: B3GLCT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23161355
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome-MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: IUGR with shortening of the long bones diagnosed antenatally reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.140 B3GAT3 Krithika Murali gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 26754439; 31988067
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Added comment: Antenatal presentation with shortened and bowed long bones described.
Sources: Expert list, Literature
Genetic Epilepsy v0.1736 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from to Other
Genetic Epilepsy v0.1735 ATP6AP2 Zornitza Stark Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Marked gene: ASPA as ready
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1733 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1732 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1731 ASPA Zornitza Stark Publications for gene: ASPA were set to
Genetic Epilepsy v0.1730 ASPA Zornitza Stark Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1729 ARX Zornitza Stark Marked gene: ARX as ready
Genetic Epilepsy v0.1729 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1729 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004 to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1728 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1727 ARX Zornitza Stark Publications for gene: ARX were set to
Genetic Epilepsy v0.1726 ARX Zornitza Stark Mode of inheritance for gene: ARX 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)