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Neurodegeneration with brain iron accumulation v1.0 Bryony Thompson promoted panel to version 1.0
Neurodegeneration with brain iron accumulation v0.35 WDR45 Sangavi Sivagnanasundram reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23447832, 23176820; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegeneration with brain iron accumulation v0.35 PLA2G6 Sangavi Sivagnanasundram reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718, 24745848, 27516098; Phenotypes: PLA2G6-associated neurodegeneration MONDO:0017998; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 PANK2 Sangavi Sivagnanasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822, 22127788; Phenotypes: Neurodegeneration with brain iron accumulation 1 MIM#234200, pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 FTL Sangavi Sivagnanasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 12746423, 15099026; Phenotypes: Neurodegeneration with brain iron accumulation 3 MIIM#606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegeneration with brain iron accumulation v0.35 FA2H Sangavi Sivagnanasundram reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 20853438, 19068277; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 DCAF17 Sangavi Sivagnanasundram reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 CP Sangavi Sivagnanasundram reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301666, 32235485, 11756598, 10997552; Phenotypes: aceruloplasminemia MONDO:0011426; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 COASY Sangavi Sivagnanasundram reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 27021474, 24360804, 28489334; Phenotypes: neurodegeneration with brain iron accumulation 6 MONDO:0014290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 ATP13A2 Sangavi Sivagnanasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22743658, 23447832, 29325618, 20310007; Phenotypes: Kufor-Rakeb syndrome MONDO:0011706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.35 THAP1 Bryony Thompson Marked gene: THAP1 as ready
Neurodegeneration with brain iron accumulation v0.35 THAP1 Bryony Thompson Gene: thap1 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.35 THAP1 Bryony Thompson Classified gene: THAP1 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.35 THAP1 Bryony Thompson Gene: thap1 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.34 DDHD1 Bryony Thompson Marked gene: DDHD1 as ready
Neurodegeneration with brain iron accumulation v0.34 DDHD1 Bryony Thompson Gene: ddhd1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.34 DDHD1 Bryony Thompson Classified gene: DDHD1 as Red List (low evidence)
Neurodegeneration with brain iron accumulation v0.34 DDHD1 Bryony Thompson Added comment: Comment on list classification: Only single case reported with iron accumulation
Neurodegeneration with brain iron accumulation v0.34 DDHD1 Bryony Thompson Gene: ddhd1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.33 SQSTM1 Bryony Thompson Marked gene: SQSTM1 as ready
Neurodegeneration with brain iron accumulation v0.33 SQSTM1 Bryony Thompson Gene: sqstm1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.33 SQSTM1 Bryony Thompson Classified gene: SQSTM1 as Red List (low evidence)
Neurodegeneration with brain iron accumulation v0.33 SQSTM1 Bryony Thompson Added comment: Comment on list classification: Only single family reported with iron accumulation
Neurodegeneration with brain iron accumulation v0.33 SQSTM1 Bryony Thompson Gene: sqstm1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.32 Bryony Thompson Panel name changed from Neuroferritinopathies to Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation v0.31 DDHD1 Shekeeb Mohammad gene: DDHD1 was added
gene: DDHD1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 28818478
Phenotypes for gene: DDHD1 were set to spastic paraplegia; sensory neuropathy
Review for gene: DDHD1 was set to GREEN
gene: DDHD1 was marked as current diagnostic
Added comment: Sources: Literature
Neurodegeneration with brain iron accumulation v0.31 THAP1 Shekeeb Mohammad gene: THAP1 was added
gene: THAP1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to 38094642; 33665847
Phenotypes for gene: THAP1 were set to cervical dystonia; dystonia; dystonic tremor
Review for gene: THAP1 was set to GREEN
gene: THAP1 was marked as current diagnostic
Added comment: 3 published cases; 1 under clinical care with a pathogenic THAP1 variant.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.31 SQSTM1 Shekeeb Mohammad gene: SQSTM1 was added
gene: SQSTM1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQSTM1 were set to 27545679
Phenotypes for gene: SQSTM1 were set to ataxia; dystonia; gaze palsy; neuroregression; cognitive decline; childhood dementia
Review for gene: SQSTM1 was set to GREEN
gene: SQSTM1 was marked as current diagnostic
Added comment: Sources: Literature
Neurodegeneration with brain iron accumulation v0.31 ATP7B Shekeeb Mohammad reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33680437, 28376267, 34289020; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Neurodegeneration with brain iron accumulation v0.31 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669
Neurodegeneration with brain iron accumulation v0.30 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Marked gene: FTH1 as ready
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.29 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Neurodegeneration with brain iron accumulation v0.28 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Neurodegeneration with brain iron accumulation v0.28 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.28 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia to Wilson disease, MIM# 277900
Neurodegeneration with brain iron accumulation v0.27 ATP7B Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.27 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.26 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.26 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Neurodegeneration with brain iron accumulation v0.26 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.26 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Neurodegeneration with brain iron accumulation v0.25 AP4M1 Zornitza Stark Classified gene: AP4M1 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.25 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.24 AP4M1 Zornitza Stark changed review comment from: Brain iron accumulation is not a consistent/common feature of this condition.; to: Brain iron accumulation is a rarely reported feature.
Neurodegeneration with brain iron accumulation v0.24 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.24 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Neurodegeneration with brain iron accumulation v0.24 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.24 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition to Pettigrew syndrome, MIM# 304340
Neurodegeneration with brain iron accumulation v0.23 AP1S2 Zornitza Stark Classified gene: AP1S2 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.23 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.22 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegeneration with brain iron accumulation v0.22 ATP7B Shekeeb Mohammad gene: ATP7B was added
gene: ATP7B was added to Neuroferritinopathies. Sources: Literature,Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 27543917; 28376267
Phenotypes for gene: ATP7B were set to dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia
gene: ATP7B was marked as current diagnostic
Neurodegeneration with brain iron accumulation v0.22 AP4M1 Shekeeb Mohammad gene: AP4M1 was added
gene: AP4M1 was added to Neuroferritinopathies. Sources: Literature,Expert list
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 29473051
Phenotypes for gene: AP4M1 were set to progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition
Review for gene: AP4M1 was set to GREEN
gene: AP4M1 was marked as current diagnostic
Added comment: Sources: Literature, Expert list
Neurodegeneration with brain iron accumulation v0.22 AP1S2 Shekeeb Mohammad gene: AP1S2 was added
gene: AP1S2 was added to Neuroferritinopathies. Sources: Expert list,Literature
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 23756445
Phenotypes for gene: AP1S2 were set to spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition
Penetrance for gene: AP1S2 were set to Complete
Review for gene: AP1S2 was set to GREEN
Added comment: Sources: Expert list, Literature
Neurodegeneration with brain iron accumulation v0.22 BCAS3 Zornitza Stark Marked gene: BCAS3 as ready
Neurodegeneration with brain iron accumulation v0.22 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.22 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from spasticity; intellectual disability; global developmental delay; microcephaly; short stature to Hengel-Maroofian-Schols syndrome, MIM# 619641
Neurodegeneration with brain iron accumulation v0.21 BCAS3 Zornitza Stark Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502
Neurodegeneration with brain iron accumulation v0.20 BCAS3 Zornitza Stark Classified gene: BCAS3 as Green List (high evidence)
Neurodegeneration with brain iron accumulation v0.20 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.19 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34981858; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.19 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from ataxia; visual impairment; neuroregression to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246
Neurodegeneration with brain iron accumulation v0.18 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence)
Neurodegeneration with brain iron accumulation v0.18 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.17 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487, Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.17 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Neurodegeneration with brain iron accumulation v0.17 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.17 GTPBP2 Zornitza Stark Phenotypes for gene: GTPBP2 were changed from dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair to Jaberi-Elahi syndrome, MIM# 617988
Neurodegeneration with brain iron accumulation v0.16 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.16 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.15 GTPBP2 Zornitza Stark reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Jaberi-Elahi syndrome, MIM# 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.15 GTPBP2 Shekeeb Mohammad gene: GTPBP2 was added
gene: GTPBP2 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to dystonia; ataxia; cognitive dysfunction; motor neuropathy; retinal abnormalities; sparse thin and brittle hair
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Sources: Literature
Neurodegeneration with brain iron accumulation v0.15 BCAS3 Shekeeb Mohammad gene: BCAS3 was added
gene: BCAS3 was added to Neuroferritinopathies. Sources: Expert Review,Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502
Phenotypes for gene: BCAS3 were set to spasticity; intellectual disability; global developmental delay; microcephaly; short stature
Penetrance for gene: BCAS3 were set to unknown
Review for gene: BCAS3 was set to GREEN
gene: BCAS3 was marked as current diagnostic
Added comment: Sources: Expert Review, Literature
Neurodegeneration with brain iron accumulation v0.15 AFG3L2 Shekeeb Mohammad gene: AFG3L2 was added
gene: AFG3L2 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 32237276
Phenotypes for gene: AFG3L2 were set to ataxia; visual impairment; neuroregression
Review for gene: AFG3L2 was set to GREEN
gene: AFG3L2 was marked as current diagnostic
Added comment: Sources: Literature
Neurodegeneration with brain iron accumulation v0.15 SCP2 Shekeeb Mohammad edited their review of gene: SCP2: Changed rating: AMBER
Neurodegeneration with brain iron accumulation v0.15 SCP2 Shekeeb Mohammad reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 35996156; Phenotypes: progressive bulbar dysfunction, dementia, azoospermia, cardiac dysrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegeneration with brain iron accumulation v0.15 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Neurodegeneration with brain iron accumulation v0.14 SCP2 Zornitza Stark Phenotypes for gene: SCP2 were changed from Neurodegeneration with brain iron accumulation; ataxia to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Neurodegeneration with brain iron accumulation; ataxia
Neurodegeneration with brain iron accumulation v0.13 SCP2 Zornitza Stark Publications for gene: SCP2 were set to 26497993
Neurodegeneration with brain iron accumulation v0.12 SCP2 Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.12 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.11 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None
Neurodegeneration with brain iron accumulation v0.11 REPS1 Zornitza Stark Marked gene: REPS1 as ready
Neurodegeneration with brain iron accumulation v0.11 REPS1 Zornitza Stark Gene: reps1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.11 REPS1 Zornitza Stark gene: REPS1 was added
gene: REPS1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: REPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REPS1 were set to 29395073
Phenotypes for gene: REPS1 were set to Neurodegeneration with brain iron accumulation 7 , MIM# 617916
Review for gene: REPS1 was set to RED
Added comment: Two siblings reported with compound het missense variants in this gene and a neurodegenerative course in childhood.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.10 FTH1 Zornitza Stark Classified gene: FTH1 as Amber List (moderate evidence)
Neurodegeneration with brain iron accumulation v0.10 FTH1 Zornitza Stark Gene: fth1 has been classified as Amber List (Moderate Evidence).
Neurodegeneration with brain iron accumulation v0.9 FTH1 Paul De Fazio gene: FTH1 was added
gene: FTH1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 36778397
Phenotypes for gene: FTH1 were set to Neuroferritinopathy (MONDO:0011638)
Mode of pathogenicity for gene: FTH1 was set to Other
Review for gene: FTH1 was set to AMBER
gene: FTH1 was marked as current diagnostic
Added comment: Note paper is pre-print hence Amber rating.

5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.

Patient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.

Note NMD-escape variants in gnomAD exist, upstream of the variants in patients.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.9 Zornitza Stark HPO terms changed from HP:0012675 to Iron accumulation in brain, HP:0012675
List of related panels changed from HP:0012675 to Iron accumulation in brain; HP:0012675
Neurodegeneration with brain iron accumulation v0.8 Zornitza Stark List of related panels changed from to HP:0012675
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
Neurodegeneration with brain iron accumulation v0.5 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from Mitochondrial membrane protein-associated neurodegeneration (MPAN) to Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Neurodegeneration with brain iron accumulation v0.4 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Neurodegeneration with brain iron accumulation v0.3 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson Marked gene: SCP2 as ready
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson Gene: scp2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson gene: SCP2 was added
gene: SCP2 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 26497993
Phenotypes for gene: SCP2 were set to Neurodegeneration with brain iron accumulation; ataxia
Review for gene: SCP2 was set to RED
Added comment: A single case with biallelic variants has been reported with neurodegeneration with brain iron accumulation and ataxia.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson Marked gene: PSEN1 as ready
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson Gene: psen1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 28664294
Phenotypes for gene: PSEN1 were set to Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274
Review for gene: PSEN1 was set to RED
Added comment: A single case has been reported with a de novo variant and iron accumulation in the brain.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Neurodegeneration with brain iron accumulation v0.0 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to Beta-propeller protein-associated neurodegeneration (BPAN)
Neurodegeneration with brain iron accumulation v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration (PLAN)
Neurodegeneration with brain iron accumulation v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Pantothenate kinase-associated neurodegeneration (PKAN)
Neurodegeneration with brain iron accumulation v0.0 FTL Bryony Thompson gene: FTL was added
gene: FTL was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Neurodegeneration with brain iron accumulation v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Fatty acid hydroxylase-associated neurodegeneration (FAHN)
Neurodegeneration with brain iron accumulation v0.0 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome
Neurodegeneration with brain iron accumulation v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminemia
Neurodegeneration with brain iron accumulation v0.0 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to OMIM 618266); COASY protein-associated neurodegeneration (CoPAN
Neurodegeneration with brain iron accumulation v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Mitochondrial membrane protein-associated neurodegeneration (MPAN)
Neurodegeneration with brain iron accumulation v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome (OMIM 606693)
Neurodegeneration with brain iron accumulation v0.0 Bryony Thompson Added panel Neuroferritinopathies