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Retinal disorders v8.86 MORC2 Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease.; to: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with syndromic retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease.
Retinal disorders v8.86 MORC2 Ida Ertmanska commented on gene: MORC2: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease.
Retinal disorders v8.86 MORC2 Ida Ertmanska Phenotypes for gene: MORC2 were changed from Retinal dystrophy to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Retinal dystrophy, HP:0000556
Retinal disorders v8.85 MORC2 Ida Ertmanska Publications for gene: MORC2 were set to PMID: 36791574, 32693025
Retinal disorders v8.84 MORC2 Ida Ertmanska Classified gene: MORC2 as Amber List (moderate evidence)
Retinal disorders v8.84 MORC2 Ida Ertmanska Gene: morc2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.83 MORC2 Ida Ertmanska Mode of inheritance for gene: MORC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v8.82 MORC2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: MORC2.
Tag Q1_26_NHS_review tag was added to gene: MORC2.
Retinal disorders v8.82 MORC2 Ida Ertmanska reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26659848, 32693025, 36791574, 39143067, 40302207; Phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v8.78 MORC2 Siying Lin gene: MORC2 was added
gene: MORC2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MORC2 were set to PMID: 36791574, 32693025
Phenotypes for gene: MORC2 were set to Retinal dystrophy
Penetrance for gene: MORC2 were set to unknown
Mode of pathogenicity for gene: MORC2 was set to Other
Review for gene: MORC2 was set to GREEN
Added comment: PMID 32693025 - 5 out of 6 affected individuals who had dilated eye exams had retinal pigmentary abnormalities
PMID 36791574 - retinopathy seen in at least 3 out of 7 affected individuals
Sources: Literature
Retinal disorders v6.15 PQLC2 Arina Puzriakova Tag gene-checked tag was added to gene: PQLC2.
Retinal disorders v6.7 TTC21B Sarah Leigh Tag Q1_24_promote_green was removed from gene: TTC21B.
Tag Q1_24_NHS_review was removed from gene: TTC21B.
Retinal disorders v6.7 PQLC2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: PQLC2.
Retinal disorders v6.7 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 PQLC2 Eleanor Williams reviewed gene: PQLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.6 TTC21B Sarah Leigh Source Expert Review Green was added to TTC21B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 PQLC2 Sarah Leigh Source NHS GMS was added to PQLC2.
Source Expert Review Green was added to PQLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v5.6 PQLC2 Achchuthan Shanmugasundram Classified gene: PQLC2 as Amber List (moderate evidence)
Retinal disorders v5.6 PQLC2 Achchuthan Shanmugasundram Gene: pqlc2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PQLC2.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram commented on gene: PQLC2: HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: PQLC2.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram gene: PQLC2 was added
gene: PQLC2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PQLC2 were set to 35486108
Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: PQLC2 was set to GREEN
Added comment: PMID:35486108 reported whole-exome sequencing with targeted analysis of SLC genes in 913 cases from 785 families with inherited retinal dystrophy. This identified 2 different homozygous variants in SLC66A1 in three individuals from two families with adult-onset retinal dystrophy.

Olinger et al. (2024) (https://www.sciencedirect.com/science/article/pii/S2949774424009804) reported CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. This identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy, while parents are heterozygous carriers. Review of cohort data then identified homozygous loss-of-function variants (1 nonsense, 2 frameshift) in another 3 unrelated individuals with rod-cone dystrophy.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Retinal disorders v5.3 DYNC2H1 Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DYNC2H1.
Retinal disorders v5.3 DYNC2H1 Arina Puzriakova Source NHS GMS was added to DYNC2H1.
Source Expert Review Green was added to DYNC2H1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v5.2 DYNC2H1 Arina Puzriakova reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.78 TTC21B Achchuthan Shanmugasundram Classified gene: TTC21B as Amber List (moderate evidence)
Retinal disorders v4.78 TTC21B Achchuthan Shanmugasundram Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.77 TTC21B Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: TTC21B.
Tag Q1_24_NHS_review tag was added to gene: TTC21B.
Retinal disorders v4.77 TTC21B Achchuthan Shanmugasundram edited their review of gene: TTC21B: Changed rating: GREEN
Retinal disorders v4.71 TTC21B Siying Lin reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Retinal dystrophy, renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.55 TTC21B Achchuthan Shanmugasundram Classified gene: TTC21B as Amber List (moderate evidence)
Retinal disorders v4.55 TTC21B Achchuthan Shanmugasundram Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.54 TTC21B Achchuthan Shanmugasundram Phenotypes for gene: TTC21B were changed from Eye Disorders to Retinal dystrophy, HP:0000556
Retinal disorders v4.53 TTC21B Achchuthan Shanmugasundram Publications for gene: TTC21B were set to 21068128; 33599192
Retinal disorders v4.52 TTC21B Achchuthan Shanmugasundram Publications for gene: TTC21B were set to
Retinal disorders v4.51 TTC21B Achchuthan Shanmugasundram Mode of inheritance for gene: TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.50 TTC21B Achchuthan Shanmugasundram reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy, HP:0000556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.48 TTC21B Nour Elkhateeb reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21068128, 33599192; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DYNC2H1.
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Classified gene: DYNC2H1 as Amber List (moderate evidence)
Retinal disorders v4.20 DYNC2H1 Achchuthan Shanmugasundram Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.19 DYNC2H1 Achchuthan Shanmugasundram Phenotypes for gene: DYNC2H1 were changed from to retinitis pigmentosa, MONDO:0019200
Retinal disorders v4.18 DYNC2H1 Achchuthan Shanmugasundram Publications for gene: DYNC2H1 were set to
Retinal disorders v4.17 DYNC2H1 Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32753734; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.32 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were set to 28285769
Retinal disorders v2.276 C2 Arina Puzriakova Phenotypes for gene: C2 were changed from Macular Degeneration to {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489
Retinal disorders v2.213 SPTLC2 Ivone Leong Classified gene: SPTLC2 as Red List (low evidence)
Retinal disorders v2.213 SPTLC2 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.

Affected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.

As there is only one case, there is not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Retinal disorders v2.213 SPTLC2 Ivone Leong Gene: sptlc2 has been classified as Red List (Low Evidence).
Retinal disorders v2.212 SPTLC2 Ivone Leong Publications for gene: SPTLC2 were set to PMID: 31509666
Retinal disorders v2.211 SPTLC1 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.

Affected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.

While there appears to be a link between this gene and macular telangiectasia type 2, all affected families/individuals have the same variant. Therefore, there is currently enough evidence to support a gene-disease association. This gene has been given an Amber rating until more information is available.
Retinal disorders v2.209 SPTLC2 Dmitrijs Rots gene: SPTLC2 was added
gene: SPTLC2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to PMID: 31509666
Phenotypes for gene: SPTLC2 were set to macular telangiectasia type 2; vision loss; neuropathy
Penetrance for gene: SPTLC2 were set to unknown
Review for gene: SPTLC2 was set to GREEN
Added comment: Common feature of HSAN1 macular telangiectasia type 2 and identified in two families with primarily diagnosed macular telangiectasia type 2 in PMID: 31509666.
Sources: Literature
Retinal disorders v2.16 ROM1 Eleanor Williams changed review comment from: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But
reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.; to: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.
Retinal disorders v2.14 DYNC2H1 Eleanor Williams gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.
Note this gene produces a dynein-2 protein that is found in cilia.
No publication relating to this work has been found in PubMed at this time.
Sources: Literature
Retinal disorders v2.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 EXOSC2 Ivone Leong reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to
Retinal disorders v2.3 EXOSC2 Ivone Leong gene: EXOSC2 was added
gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: EXOSC2 was set to
Retinal disorders v1.219 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; Eye Disorders to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; Eye Disorders
Retinal disorders v1.160 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC21B Gavin Arno reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A5 Gavin Arno reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2 Gavin Arno reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CWC27 Simon Ramsden reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A1 Gavin Arno reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CC2D2A Gavin Arno reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2orf71 Gavin Arno reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C21orf2 Gavin Arno reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 CWC27 Ivone Leong reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 CWC27 Ivone Leong gene: CWC27 was added
gene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinal disorders v1.137 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Retinal disorders v1.137 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Retinal disorders v1.137 C2 Ivone Leong Source NHS GMS was added to C2.
Retinal disorders v1.137 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C21orf2 Ivone Leong Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders C21orf2 Louise Daugherty commented on gene: C21orf2
Retinal disorders C2orf71 Louise Daugherty commented on gene: C2orf71
Retinal disorders C21orf2 Rebecca Foulger classified C21orf2 as green
Retinal disorders C21orf2 Rebecca Foulger edited their review of C21orf2
Retinal disorders C21orf2 Rebecca Foulger commented on C21orf2
Retinal disorders C2orf71 BRIDGE consortium reviewed C2orf71