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Peroxisomal disorders v1.12 ACBD5 Arina Puzriakova Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402
Peroxisomal disorders v1.11 ACBD5 Arina Puzriakova Tag Q2_21_rating was removed from gene: ACBD5.
Peroxisomal disorders v1.11 ACBD5 Arina Puzriakova changed review comment from: Comment on list classification: There is are sufficient unrelated cases (4) to promote this gene to Green at the next GMS panel update.; to: Comment on list classification: There is are sufficient unrelated cases (4) to support a diagnostic-grade classification (Green)
Peroxisomal disorders v1.11 ACBD5 Arina Puzriakova Classified gene: ACBD5 as Green List (high evidence)
Peroxisomal disorders v1.11 ACBD5 Arina Puzriakova Gene: acbd5 has been classified as Green List (High Evidence).
Peroxisomal disorders v1.10 ACBD5 Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy (MIM#618863) to Retinal dystrophy with leukodystrophy, OMIM:618863
Peroxisomal disorders v1.9 ACBD5 Arina Puzriakova Publications for gene: ACBD5 were set to 27799409; 23105016
Peroxisomal disorders v1.8 ACBD5 Arina Puzriakova Classified gene: ACBD5 as Amber List (moderate evidence)
Peroxisomal disorders v1.8 ACBD5 Arina Puzriakova Added comment: Comment on list classification: There is are sufficient unrelated cases (4) to promote this gene to Green at the next GMS panel update.
Peroxisomal disorders v1.8 ACBD5 Arina Puzriakova Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Peroxisomal disorders v1.7 ACBD5 Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACBD5.
Peroxisomal disorders v1.7 ACBD5 Arina Puzriakova commented on gene: ACBD5: A fourth individual was identified by Dr Helen Brittain (Genomics England Clinical Fellow) who presented with retinal dystrophy, ataxia and developmental regression at 2 yrs old
Peroxisomal disorders v1.7 ACBD5 Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders v1.7 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Peroxisomal disorders v1.6 NSDHL Zornitza Stark changed review comment from: Enzyme localised to ER rather than peroxisomes.; to: Enzyme localises to ER rather than peroxisomes.
Peroxisomal disorders v1.6 NSDHL Zornitza Stark edited their review of gene: NSDHL: Changed rating: RED
Peroxisomal disorders v1.6 NSDHL Zornitza Stark reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Peroxisomal disorders v1.6 HOGA1 Zornitza Stark reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type III (MIM#613616); Mode of inheritance: None
Peroxisomal disorders v1.6 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Peroxisomal disorders v1.6 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders v1.6 AGK Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 38, autosomal recessive, MIM# 614691, Sengers syndrome, MIM# 212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders v1.6 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to Peroxisomal disorders. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409; 23105016
Phenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy (MIM#618863)
Review for gene: ACBD5 was set to GREEN
gene: ACBD5 was marked as current diagnostic
Added comment: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation PMID: 27799409: 1 patient girl who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation PMID: 23105016: 1 family retinal dystrophy.
Sources: Expert list
Peroxisomal disorders v1.6 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Peroxisomal disorders v1.6 ARSE Louise Daugherty commented on gene: ARSE
Peroxisomal disorders ABCD1 Ellen McDonagh commented on ABCD1
Peroxisomal disorders NSDHL Ellen McDonagh commented on NSDHL
Peroxisomal disorders EBP Ellen McDonagh commented on EBP
Peroxisomal disorders FAR1 Ellen McDonagh marked FAR1 as ready
Peroxisomal disorders FAR1 Ellen McDonagh classified FAR1 as green
Peroxisomal disorders FAR1 Ellen McDonagh commented on FAR1
Peroxisomal disorders FAR1 Sarah Leigh commented on FAR1
Peroxisomal disorders Sarah Leigh promoted panel to version 1
Peroxisomal disorders Sarah Leigh approved panel
Peroxisomal disorders Sarah Leigh rejected panel
Peroxisomal disorders CBS Sarah Leigh classified CBS as red
Peroxisomal disorders CBS Sarah Leigh edited their review of CBS
Peroxisomal disorders DYM Sarah Leigh edited their review of DYM
Peroxisomal disorders AGK Sarah Leigh classified AGK as green
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Peroxisomal disorders PEX5 Sarah Leigh marked PEX5 as ready
Peroxisomal disorders PEX3 Sarah Leigh marked PEX3 as ready
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as green
Peroxisomal disorders PEX19 Sarah Leigh edited their review of PEX19
Peroxisomal disorders PEX11B Sarah Leigh classified PEX11B as green
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX19 Sarah Leigh commented on PEX19
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as amber
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX7 Sarah Leigh reviewed PEX7
Peroxisomal disorders PEX6 Sarah Leigh marked PEX6 as ready
Peroxisomal disorders PEX6 Sarah Leigh commented on PEX6
Peroxisomal disorders PEX5 Sarah Leigh edited their review of PEX5
Peroxisomal disorders PEX5 Sarah Leigh commented on PEX5
Peroxisomal disorders PEX3 Sarah Leigh reviewed PEX3
Peroxisomal disorders PEX26 Sarah Leigh reviewed PEX26
Peroxisomal disorders PEX2 Sarah Leigh reviewed PEX2
Peroxisomal disorders PEX14 Sarah Leigh edited their review of PEX14
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Peroxisomal disorders PEX16 Sarah Leigh commented on PEX16
Peroxisomal disorders PEX13 Sarah Leigh reviewed PEX13
Peroxisomal disorders PEX1 Sarah Leigh commented on PEX1
Peroxisomal disorders EBP Sarah Leigh edited their review of EBP
Peroxisomal disorders EBP Sarah Leigh commented on EBP
Peroxisomal disorders DYM Sarah Leigh commented on DYM
Peroxisomal disorders NSDHL Sarah Leigh edited their review of NSDHL
Peroxisomal disorders NSDHL Sarah Leigh commented on NSDHL
Peroxisomal disorders HOGA1 Sarah Leigh commented on HOGA1
Peroxisomal disorders GRHPR Sarah Leigh commented on GRHPR
Peroxisomal disorders ARSE Sarah Leigh commented on ARSE
Peroxisomal disorders CBS Sarah Leigh commented on CBS
Peroxisomal disorders ARSE Sarah Leigh reviewed ARSE
Peroxisomal disorders ARSE Sarah Leigh reviewed ARSE
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Peroxisomal disorders AGK Sarah Leigh commented on AGK
Peroxisomal disorders ABCD3 Sarah Leigh added ABCD3 to panel
Peroxisomal disorders ABCD3 Sarah Leigh reviewed ABCD3
Peroxisomal disorders TRIM37 Sarah Leigh marked TRIM37 as ready
Peroxisomal disorders TRIM37 Sarah Leigh commented on TRIM37
Peroxisomal disorders CAT Sarah Leigh commented on CAT
Peroxisomal disorders CAT Sarah Leigh classified CAT as green
Peroxisomal disorders IDH1 Sarah Leigh added IDH1 to panel
Peroxisomal disorders IDH1 Sarah Leigh reviewed IDH1
Peroxisomal disorders SCP2 Sarah Leigh marked SCP2 as ready
Peroxisomal disorders SCP2 Sarah Leigh commented on SCP2
Peroxisomal disorders SCP2 Sarah Leigh classified SCP2 as green
Peroxisomal disorders PHYH Sarah Leigh reviewed PHYH
Peroxisomal disorders HSD17B4 Sarah Leigh marked HSD17B4 as ready
Peroxisomal disorders HSD17B4 Sarah Leigh commented on HSD17B4
Peroxisomal disorders GNPAT Sarah Leigh marked GNPAT as ready
Peroxisomal disorders GNPAT Sarah Leigh commented on GNPAT
Peroxisomal disorders DNM1L Sarah Leigh marked DNM1L as ready
Peroxisomal disorders DNM1L Sarah Leigh commented on DNM1L
Peroxisomal disorders ABCD1 Sarah Leigh marked ABCD1 as ready
Peroxisomal disorders ABCD1 Sarah Leigh commented on ABCD1
Peroxisomal disorders AMACR Sarah Leigh marked AMACR as ready
Peroxisomal disorders AMACR Sarah Leigh commented on AMACR
Peroxisomal disorders AGPS Sarah Leigh marked AGPS as ready
Peroxisomal disorders AGPS Sarah Leigh commented on AGPS
Peroxisomal disorders FAR1 Sarah Leigh marked FAR1 as ready
Peroxisomal disorders FAR1 Sarah Leigh added FAR1 to panel
Peroxisomal disorders FAR1 Sarah Leigh reviewed FAR1
Peroxisomal disorders AGXT Sarah Leigh marked AGXT as ready
Peroxisomal disorders AGXT Sarah Leigh commented on AGXT
Peroxisomal disorders ACOX1 Sarah Leigh marked ACOX1 as ready
Peroxisomal disorders ACOX1 Sarah Leigh commented on ACOX1
Peroxisomal disorders PEX13 Sarah Leigh commented on PEX13
Peroxisomal disorders ABCD1 Ian Berry reviewed ABCD1
Peroxisomal disorders PEX14 Ian Berry reviewed PEX14
Peroxisomal disorders PEX19 Ian Berry reviewed PEX19
Peroxisomal disorders PEX13 Ian Berry reviewed PEX13
Peroxisomal disorders PEX16 Ian Berry reviewed PEX16
Peroxisomal disorders PEX5 Ian Berry reviewed PEX5
Peroxisomal disorders ACOX1 Ian Berry reviewed ACOX1
Peroxisomal disorders SCP2 Ian Berry reviewed SCP2
Peroxisomal disorders HSD17B4 Ian Berry reviewed HSD17B4
Peroxisomal disorders PEX26 Ian Berry reviewed PEX26
Peroxisomal disorders PEX12 Ian Berry reviewed PEX12
Peroxisomal disorders PEX10 Ian Berry reviewed PEX10
Peroxisomal disorders PEX6 Ian Berry reviewed PEX6
Peroxisomal disorders PEX3 Ian Berry reviewed PEX3
Peroxisomal disorders PEX2 Ian Berry reviewed PEX2
Peroxisomal disorders PEX1 Ian Berry reviewed PEX1
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as red
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh commented on PEX11B
Peroxisomal disorders PEX14 Sarah Leigh classified PEX14 as green
Peroxisomal disorders PEX14 Sarah Leigh commented on PEX14
Peroxisomal disorders PEX12 Ellen McDonagh reviewed PEX12
Peroxisomal disorders Sarah Leigh approved panel
Peroxisomal disorders PEX10 Ellen McDonagh reviewed PEX10
Peroxisomal disorders PEX1 Ellen McDonagh reviewed PEX1