| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Peroxisomal Disorders v0.53 | ABCD1 | Zornitza Stark Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602; 21700483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.52 | ABCD1 | Zornitza Stark Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602, 21700483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.51 | ABCD1 | Zornitza Stark Publications for gene: ABCD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.47 | ABCD1 | Sangavi Sivagnanasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004013c; Phenotypes: adrenoleukodystrophy (MONDO:0018544); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.46 | PEX14 | Zornitza Stark Publications for gene: PEX14 were set to 37493040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.45 | PEX14 | Zornitza Stark Publications for gene: PEX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.43 | PEX14 | Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.43 | PEX14 | Lilian Downie reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.38 | PEX5 | Zornitza Stark Publications for gene: PEX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.36 | PEX5 | Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.35 | PEX7 | Zornitza Stark Publications for gene: PEX7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.33 | PEX7 | Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.32 | PHYH | Zornitza Stark Publications for gene: PHYH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.30 | PHYH | Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326939, 9326940; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.29 | PEX11B | Zornitza Stark Publications for gene: PEX11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.27 | PEX11B | Zornitza Stark reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.26 | SCP2 | Zornitza Stark Publications for gene: SCP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.23 | 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: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.23 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.22 | HSD17B4 | Zornitza Stark Publications for gene: HSD17B4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.20 | HSD17B4 | Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.20 | FAR1 | Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); Cataracts, spastic paraparesis, and speech delay, MIM#619338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.19 | FAR1 | Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.19 | FAR1 | Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.18 | FAR1 | Zornitza Stark Publications for gene: FAR1 were set to 25439727 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | FAR1 | Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33239752; Phenotypes: spastic paraparesis and bilateral cataracts; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Added comment: Comment when marking as ready: Enzyme is located primarily in ER, phenotypic overlap with peroxisomal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.10 | ACBD5 | Zornitza Stark Publications for gene: ACBD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.7 | ABCD3 | Zornitza Stark Publications for gene: ABCD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.4 | EBP |
Crystle Lee gene: EBP was added gene: EBP was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 12509714 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant (MIM#302960) Review for gene: EBP was set to AMBER Added comment: Well reported in females with the associated condition. Sources: Expert Review |
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| Peroxisomal Disorders v0.4 | FAR1 |
Crystle Lee gene: FAR1 was added gene: FAR1 was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAR1 were set to 25439727 Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) Review for gene: FAR1 was set to AMBER Added comment: 3 variants from 2 families reported with the associated phenotype in 2014 with supporting functional studies. Amber pending additional reports. PMID: 25439727: 3 siblings from 2 families affected by severe ID, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. Sources: Expert Review |
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| Peroxisomal Disorders v0.4 | ARSE |
Crystle Lee gene: ARSE was added gene: ARSE was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARSE were set to 23470839 Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive (MIM#302950) Review for gene: ARSE was set to AMBER Added comment: Well reported in males with Chondrodysplasia punctata due to deficiency of arylsulfatase E activity. Sources: Expert Review |
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| Peroxisomal Disorders v0.4 | AGK |
Crystle Lee gene: AGK was added gene: AGK was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 22284826 Phenotypes for gene: AGK were set to Sengers syndrome (MIM#212350) Review for gene: AGK was set to AMBER Added comment: >5 families reported with Sengers syndrome, a mitochodrial condition. Unsure if qualifies for inclusion in this panel Sources: Expert Review |
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| Peroxisomal Disorders v0.4 | ACBD5 | Crystle Lee reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.4 | ABCD3 | Crystle Lee reviewed gene: ABCD3: Rating: RED; Mode of pathogenicity: None; Publications: 25168382; Phenotypes: ?Bile acid synthesis defect, congenital, 5 (MIM#616278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.4 | ACOX2 | Zornitza Stark Publications for gene: ACOX2 were set to 27647924; 27884763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.2 | ACOX2 | Zornitza Stark edited their review of gene: ACOX2: Added comment: Third family reported.; Changed rating: GREEN; Changed publications: 29287774; Changed phenotypes: Bile acid synthesis defect, congenital, 6, 617308; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.1 | ACOX2 |
Anna Le Fevre gene: ACOX2 was added gene: ACOX2 was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX2 were set to 27647924; 27884763 Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308 Review for gene: ACOX2 was set to AMBER Added comment: Sources: Expert Review |
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| Peroxisomal Disorders v0.0 | CAT |
Zornitza Stark gene: CAT was added gene: CAT was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CAT was set to Unknown |
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