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Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Tag Q4_23_MOI tag was added to gene: EPHA2.
Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 35918037 highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1, therefore, the mode of inheritance for EPHA2 should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.
Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bilateral congenital or childhood onset cataracts v4.5 EPHA2 Sarah Leigh Phenotypes for gene: EPHA2 were changed from Age-Related Cortical Cataract; Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600
Bilateral congenital or childhood onset cataracts v4.4 EPHA2 Sarah Leigh Publications for gene: EPHA2 were set to
Bilateral congenital or childhood onset cataracts v4.3 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME to Basal cell nevus syndrome 1, OMIM:109400
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Bilateral congenital or childhood onset cataracts v4.1 Catherine Snow Panel version 4.0 has been signed off on 2023-03-22
Bilateral congenital or childhood onset cataracts v4.0 Catherine Snow promoted panel to version 4.0
Bilateral congenital or childhood onset cataracts v3.5 Achchuthan Shanmugasundram List of related panels changed from Cataracts; Bilateral congenital or childhood onset cataracts; R31 to Cataracts; R31
Bilateral congenital or childhood onset cataracts v3.4 Achchuthan Shanmugasundram Panel name changed from Cataracts to Bilateral congenital or childhood onset cataracts
List of related panels changed from R31; Bilateral congenital or childhood onset cataracts to Cataracts; Bilateral congenital or childhood onset cataracts; R31
Bilateral congenital or childhood onset cataracts v3.3 CDK9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CDK9.
Bilateral congenital or childhood onset cataracts v3.3 CDK9 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CDK9.
Tag Q3_22_MOI was removed from gene: CDK9.
Bilateral congenital or childhood onset cataracts v3.3 CDK9 Achchuthan Shanmugasundram reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v3.2 CDK9 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK9.
Source NHS GMS was added to CDK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-11-30
Bilateral congenital or childhood onset cataracts v3.0 Arina Puzriakova promoted panel to version 3.0
Bilateral congenital or childhood onset cataracts v2.111 FAM126A Eleanor Williams commented on gene: FAM126A
Bilateral congenital or childhood onset cataracts v2.111 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
Bilateral congenital or childhood onset cataracts v2.111 CDK9 Sarah Leigh Entity copied from Intellectual disability v3.1716
Bilateral congenital or childhood onset cataracts v2.111 CDK9 Sarah Leigh gene: CDK9 was added
gene: CDK9 was added to Cataracts. Sources: Literature,Expert Review Amber
Q3_22_rating, Q3_22_MOI tags were added to gene: CDK9.
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 26633546; 30237576; 29302074; 33640901
Phenotypes for gene: CDK9 were set to Global developmental delay; Intellectual disability; Abnormality of vision; Congenital cataract; Iris coloboma; Abnormal heart morphology; Choanal atresia; Abnormality of the ear; Preauricular skin tag; Hearing impairment; Abnormality of the genitourinary system; Abnormality of limbs; Abnormality of the vertebrae; Abnormality of nervous system morphology; Seizures
Penetrance for gene: CDK9 were set to Complete
Bilateral congenital or childhood onset cataracts v2.110 COL11A1 Arina Puzriakova commented on gene: COL11A1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Bilateral congenital or childhood onset cataracts v2.109 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Bilateral congenital or childhood onset cataracts v2.109 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Bilateral congenital or childhood onset cataracts v2.109 KIAA1109 Sarah Leigh commented on gene: KIAA1109
Bilateral congenital or childhood onset cataracts v2.109 ZNF526 Sarah Leigh Tag gene-checked was removed from gene: ZNF526.
Bilateral congenital or childhood onset cataracts v2.109 ZNF526 Sarah Leigh Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
Bilateral congenital or childhood onset cataracts v2.108 ZNF526 Eleanor Williams Tag gene-checked tag was added to gene: ZNF526.
Bilateral congenital or childhood onset cataracts v2.108 CYP51A1 Sarah Leigh Publications for gene: CYP51A1 were set to 22935719; 25148791
Bilateral congenital or childhood onset cataracts v2.107 CYP51A1 Sarah Leigh Tag gene-checked tag was added to gene: CYP51A1.
Bilateral congenital or childhood onset cataracts v2.107 CYP51A1 Sarah Leigh Publications for gene: CYP51A1 were set to Aldahmesh (2012) Genet Med 14(12):955-962 - novel missense variant was reported to segregate with a cataract phenotype in a Saudi Arabian family. Gillespie et al (2014) Ophthlamol 121:2124-2137 (article not available for full text access).
Bilateral congenital or childhood onset cataracts v2.106 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment to Knobloch syndrome, type 1, OMIM:267750
Bilateral congenital or childhood onset cataracts v2.105 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to Aldahmesh et al (2011) J Genet Med 48(9):597-601; Williams et al (2008) Ophthal Genet 29:85-86; Suzuki et al (2002) Am J Hum Genet 71:1320-1329
Bilateral congenital or childhood onset cataracts v2.104 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME; Peroxisome biogenesis disorder to Heimler syndrome 2, OMIM:616617
Bilateral congenital or childhood onset cataracts v2.103 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
Bilateral congenital or childhood onset cataracts v2.102 PEX6 Sarah Leigh reviewed gene: PEX6: Rating: ; Mode of pathogenicity: None; Publications: 26387595; Phenotypes: Heimler syndrome 2 OMIM:616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.102 COL11A1 Arina Puzriakova commented on gene: COL11A1
Bilateral congenital or childhood onset cataracts v2.101 COL11A1 Arina Puzriakova Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong Tag Q2_21_rating was removed from gene: MED27.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong commented on gene: MED27
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong commented on gene: FAR1
Bilateral congenital or childhood onset cataracts v2.99 MED27 Ivone Leong Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.99 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong Tag for-review was removed from gene: PLOD3.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong Tag for-review was removed from gene: CTDP1.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong Tag for-review was removed from gene: EED.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong Tag for-review was removed from gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong Tag for-review was removed from gene: ZNF526.
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong Tag for-review was removed from gene: SREBF1.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong Tag for-review was removed from gene: SLC16A12.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong Tag for-review was removed from gene: PIK3C2A.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong Tag for-review was removed from gene: GFER.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong Tag for-review was removed from gene: ABHD12.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong Tag for-review was removed from gene: NACC1.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong Tag for-review was removed from gene: INTS1.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong Tag for-review was removed from gene: COG4.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong Tag for-review was removed from gene: ANAPC1.
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong Tag for-review was removed from gene: NUP188.
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong Tag for-review was removed from gene: ATAD3A.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong Tag for-review was removed from gene: VPS4A.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype."
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Please note that there is a common deep intronic variant."
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong commented on gene: ZNF526
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong commented on gene: SREBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong commented on gene: SLC16A12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong commented on gene: GFER: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong commented on gene: NACC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong commented on gene: NUP188
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong commented on gene: ATAD3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong commented on gene: VPS4A
Bilateral congenital or childhood onset cataracts v2.97 EED Ivone Leong Source Expert Review Red was added to EED.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.97 GEMIN4 Ivone Leong Source Expert Review Amber was added to GEMIN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.97 ZNF526 Ivone Leong Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SREBF1 Ivone Leong Source Expert Review Green was added to SREBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SLC16A12 Ivone Leong Source Expert Review Green was added to SLC16A12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PIK3C2A Ivone Leong Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 GFER Ivone Leong Source Expert Review Green was added to GFER.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ABHD12 Ivone Leong Source Expert Review Green was added to ABHD12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 POLG Ivone Leong Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PLOD3 Ivone Leong Source Expert Review Green was added to PLOD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NACC1 Ivone Leong Source Expert Review Green was added to NACC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 INTS1 Ivone Leong Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 COG4 Ivone Leong Source Expert Review Green was added to COG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ANAPC1 Ivone Leong Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NUP188 Ivone Leong Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ATAD3A Ivone Leong Source Expert Review Green was added to ATAD3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 VPS4A Ivone Leong Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.96 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
Bilateral congenital or childhood onset cataracts v2.95 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
Bilateral congenital or childhood onset cataracts v2.94 TCF4 Sarah Leigh Classified gene: TCF4 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.94 TCF4 Sarah Leigh Added comment: Comment on list classification: Single case of paediatric cateracts
Bilateral congenital or childhood onset cataracts v2.94 TCF4 Sarah Leigh Gene: tcf4 has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v2.93 TCF4 Sarah Leigh Added comment: Comment on phenotypes: Variants in TCF4 are associated with Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267, however, this condition does not include cataracts, which associated with TCF4 trinucleotide repeat (RCV000186552.6) in https://doi.org/10.3390/genes12121918.
Bilateral congenital or childhood onset cataracts v2.93 TCF4 Sarah Leigh Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 to paediatric cataracts
Bilateral congenital or childhood onset cataracts v2.92 TCF4 Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
Bilateral congenital or childhood onset cataracts v2.91 TCF4 Sarah Leigh edited their review of gene: TCF4: Added comment: In https://doi.org/10.3390/genes12121918 (no PMID number available as of 9th December 2021) the authors report TCF4 trinucleotide repeat (RCV000186552.6) in a case Kearns-Sayre Syndrome and corneal endothelial failure and paediatric cataracts.; Changed rating: AMBER; Changed publications to: https://doi.org/10.3390/genes12121918; Changed phenotypes to: paediatric cataracts
Bilateral congenital or childhood onset cataracts v2.91 TCF4 Sarah Leigh Entity copied from Corneal dystrophies v1.8
Bilateral congenital or childhood onset cataracts v2.91 TCF4 Sarah Leigh gene: TCF4 was added
gene: TCF4 was added to Cataracts. Sources: Expert Review Green,Expert list
STR tags were added to gene: TCF4.
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
Bilateral congenital or childhood onset cataracts v2.90 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Bilateral congenital or childhood onset cataracts v2.89 GLS Arina Puzriakova Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
Bilateral congenital or childhood onset cataracts v2.88 CRYBB3 Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741
Bilateral congenital or childhood onset cataracts v2.87 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, 608810; Posterior Polar Cataract to Cataract 16, multiple types, OMIM:613763; Myopathy, myofibrillar, 2, OMIM:608810
Bilateral congenital or childhood onset cataracts v2.86 COL11A1 Arina Puzriakova Phenotypes for gene: COL11A1 were changed from Marshall Syndrome; Stickler syndrome to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
Bilateral congenital or childhood onset cataracts v2.85 UBE2U Ivone Leong Entity copied from Intellectual disability v3.1331
Bilateral congenital or childhood onset cataracts v2.85 UBE2U Ivone Leong gene: UBE2U was added
gene: UBE2U was added to Cataracts. Sources: Expert Review Red,Literature
Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBE2U were set to 33776059
Phenotypes for gene: UBE2U were set to Retinoschisis, MONDO:0004579; cataracts; learning disability, MONDO:0004681; developmental delay
Bilateral congenital or childhood onset cataracts v2.84 PGRMC1 Ivone Leong Tag watchlist tag was added to gene: PGRMC1.
Bilateral congenital or childhood onset cataracts v2.84 PGRMC1 Ivone Leong Phenotypes for gene: PGRMC1 were changed from Isolated paediatric cataract to Isolated paediatric cataract; cataract, MONDO:0005129
Bilateral congenital or childhood onset cataracts v2.83 PGRMC1 Ivone Leong Classified gene: PGRMC1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.83 PGRMC1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Bilateral congenital or childhood onset cataracts v2.83 PGRMC1 Ivone Leong Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.82 PGRMC1 Zornitza Stark gene: PGRMC1 was added
gene: PGRMC1 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGRMC1 were set to 33867527; 23783460
Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract
Review for gene: PGRMC1 was set to AMBER
Added comment: A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.82 FOXE3 Eleanor Williams Publications for gene: FOXE3 were set to Iseri et al (2009) Hum Mutat 30:1378-1386; Semina et al (2001) Hum Mol Genet 10:231-236; Br mond-Gignac et al (2010) Mol Vis 16:1705-1711.
Bilateral congenital or childhood onset cataracts v2.81 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from Autosomal dominant cataracts; Peter's anomaly, microphthalmia. to Cataract 34, multiple types, OMIM:612968; cataract 34 multiple types, MONDO:0013067; Peter's anomaly; microphthalmia.
Bilateral congenital or childhood onset cataracts v2.80 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Review of mode of inheritance confirms that there are both biallelic and monoallelic cases with FOXE3 variants where cataracts are reported. See full review of MOI on the Structural eye disease panel https://panelapp.genomicsengland.co.uk/panels/509/gene/FOXE3/
Bilateral congenital or childhood onset cataracts v2.80 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.79 PEX7 Arina Puzriakova Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease; Peroxisome biogenesis disorder to Peroxisome biogenesis disorder 9B, OMIM:614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Bilateral congenital or childhood onset cataracts v2.78 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital Dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Bilateral congenital or childhood onset cataracts v2.77 Ivone Leong List of related panels changed from R31 to R31; Bilateral congenital or childhood onset cataracts
Panel version 2.76 has been signed off on 2021-08-05
Bilateral congenital or childhood onset cataracts v2.76 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from Autosomal dominant cutis laxa-3 (ADCL3); autosomal recessive cutis laxa type III (ARCL3) to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndrome MONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Bilateral congenital or childhood onset cataracts v2.75 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183
Bilateral congenital or childhood onset cataracts v2.74 FAR1 Arina Puzriakova changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752)
Sources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants affecting the Arg480 residue (PMID: 33239752)
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.74 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME to Lowe syndrome, OMIM:309000; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Bilateral congenital or childhood onset cataracts v2.73 OCRL Eleanor Williams Publications for gene: OCRL were set to
Bilateral congenital or childhood onset cataracts v2.72 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Bilateral congenital or childhood onset cataracts v2.72 FAR1 Arina Puzriakova changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752)
Sources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752)
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.72 FAR1 Arina Puzriakova Classified gene: FAR1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.72 FAR1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update
Bilateral congenital or childhood onset cataracts v2.72 FAR1 Arina Puzriakova Gene: far1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.71 FAR1 Arina Puzriakova gene: FAR1 was added
gene: FAR1 was added to Cataracts. Sources: Literature
Q2_21_rating tags were added to gene: FAR1.
Mode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FAR1 were set to 25439727; 30561787; 33239752
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Review for gene: FAR1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752)
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.70 COPB1 Arina Puzriakova Classified gene: COPB1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.70 COPB1 Arina Puzriakova Gene: copb1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.69 COPB1 Arina Puzriakova gene: COPB1 was added
gene: COPB1 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Baralle-Macken syndrome, OMIM:619255; Severe intellectual disability; Cataracts; Variable microcephaly
Review for gene: COPB1 was set to AMBER
Added comment: COPB1 is associated with a relevant phenotype in OMIM (MIM# 619255) and has a 'possible' disease confidence rating for 'COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly' in Gene2Phenotype.

- PMID: 33632302 (2021) - six individuals from two unrelated families with different homozygous variants in this gene. All affected patients developed cataracts, among other features such as severe ID and variable microcephaly. Some supportive functional data.

Rating Amber, awaiting further cases.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.68 MED27 Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.68 MED27 Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.67 MED27 Arina Puzriakova gene: MED27 was added
gene: MED27 was added to Cataracts. Sources: Literature
Q2_21_rating tags were added to gene: MED27.
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Review for gene: MED27 was set to GREEN
Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), epilepsy (9/15), and microcephaly (4/14). Cataracts were present in 10/15 patients, with four reporting mature cataracts, and 2 sibs had posterior cataracts. Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases with cataracts in patients in MED27 variants for inclusion on this panel as diagnostic-grade (Green).
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Classified gene: COL6A3 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.

This gene has been added to the Structural eye disease panel (panel ID: 509).
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Classified gene: NSUN2 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v2.64 NSUN2 Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
Bilateral congenital or childhood onset cataracts v2.63 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 28053047; 25944381
Bilateral congenital or childhood onset cataracts v2.62 VPS4A Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Bilateral congenital or childhood onset cataracts v2.62 VPS4A Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v2.61 VPS4A Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.61 VPS4A Arina Puzriakova Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including congenital/early-onset cataracts in 6/10 cases. Pathogenicity is supported by functional data.

There are sufficient cases to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Bilateral congenital or childhood onset cataracts v2.61 VPS4A Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.60 VPS4A Arina Puzriakova gene: VPS4A was added
gene: VPS4A was added to Cataracts. Sources: Expert Review
for-review tags were added to gene: VPS4A.
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186545; 33186543; 33460484
Phenotypes for gene: VPS4A were set to CIMDAG syndrome
Review for gene: VPS4A was set to GREEN
Added comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype.

- PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect.

- PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity.

- PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia
Sources: Expert Review
Bilateral congenital or childhood onset cataracts v2.59 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN2 were set to 33084202
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, MIM# 611091; cataracts
Review for gene: NSUN2 was set to RED
Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.59 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Bilateral congenital or childhood onset cataracts v2.58 SLC16A12 Ivone Leong Tag for-review tag was added to gene: SLC16A12.
Bilateral congenital or childhood onset cataracts v2.58 NUP188 Nicola Ragge reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanove Syndrome, AR, MIM:618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.57 GLS Arina Puzriakova Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685
Bilateral congenital or childhood onset cataracts v2.56 ZNF526 Arina Puzriakova Classified gene: ZNF526 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.56 ZNF526 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added for-review' tag).

At least 5 individuals from 4 unrelated families all presenting bilateral ocular cataracts, among other features (PMID: 33397746)
Bilateral congenital or childhood onset cataracts v2.56 ZNF526 Arina Puzriakova Gene: znf526 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.55 ZNF526 Arina Puzriakova gene: ZNF526 was added
gene: ZNF526 was added to Cataracts. Sources: Literature
for-review tags were added to gene: ZNF526.
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.54 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: Not sure if this is the right panel for Peters anomaly.

Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.54 SMG8 Arina Puzriakova Classified gene: SMG8 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.54 SMG8 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as although number of unrelated cases reaches threshold for inclusion (3), the phenotype is not fully penetrant and the disorder is better represented by other panels (e.g. ID, microcephaly etc). This may however we revised if further cases arise.
Bilateral congenital or childhood onset cataracts v2.54 SMG8 Arina Puzriakova Gene: smg8 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.53 SMG8 Arina Puzriakova gene: SMG8 was added
gene: SMG8 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284; 33242396
Phenotypes for gene: SMG8 were set to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism; Cataract
Review for gene: SMG8 was set to AMBER
Added comment: Currently not associated with any phenotype in OMIM or G2P.
-----
- PMID: 31130284 (2019) - One individual with cataract and a homozygous variant in this gene identified as part of a large candidate gene discovery study. Other features include microcephaly, ID, and neck hyperpigmentation. No further details were provided.

- PMID: 33242396 (2020) - Different biallelic variants in the SMG8 gene identified in 4 consanguineous families, of which 2 kindreds had 3 individuals with cataract. Authors reported congenital bilateral cataract in the two sibs, while the third patient had cataract operated at age 12yrs although the age of onset or any further information was not available. Other clinical features include GDD/ID, dysmorphic features, microcephaly, short stature, brain imaging anomalies and congenital heart disease. Some supportive functional data also provided.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.52 CTDP1 Ivone Leong Classified gene: CTDP1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.52 CTDP1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the new review, this gene has been promoted to Amber and tagged with "for-review" for the next round of GMS panel reviews so the new rating can be considered.
Bilateral congenital or childhood onset cataracts v2.52 CTDP1 Ivone Leong Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.51 CTDP1 Ivone Leong Tag for-review tag was added to gene: CTDP1.
Bilateral congenital or childhood onset cataracts v2.51 COG4 Ivone Leong Added comment: Comment on mode of pathogenicity: PMID: 30290151 suggests that Saul-Wilson syndrome variant is gain of function.
Bilateral congenital or childhood onset cataracts v2.51 COG4 Ivone Leong Mode of pathogenicity for gene: COG4 was changed from None to Other
Bilateral congenital or childhood onset cataracts v2.50 COG4 Ivone Leong Tag for-review tag was added to gene: COG4.
Bilateral congenital or childhood onset cataracts v2.50 COG4 Ivone Leong Classified gene: COG4 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.50 COG4 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Bilateral congenital or childhood onset cataracts v2.50 COG4 Ivone Leong Gene: cog4 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.49 CTDP1 Ivone Leong Tag founder-effect tag was added to gene: CTDP1.
Bilateral congenital or childhood onset cataracts v2.49 CTDP1 Ivone Leong Publications for gene: CTDP1 were set to 14517542; 24690360; 14517542
Bilateral congenital or childhood onset cataracts v2.48 CTDP1 Ivone Leong Phenotypes for gene: CTDP1 were changed from Congenital cataracts, facial dysmorphism, and neuropathy, 604168 to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402
Bilateral congenital or childhood onset cataracts v2.47 CTDP1 Ivone Leong Publications for gene: CTDP1 were set to
Bilateral congenital or childhood onset cataracts v2.46 POLG Ivone Leong Tag for-review tag was added to gene: POLG.
Bilateral congenital or childhood onset cataracts v2.46 POLG Ivone Leong Classified gene: POLG as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.46 POLG Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be Green; however, the inclusion of this gene to the panel should be reviewed by the GMS specialist group.
Bilateral congenital or childhood onset cataracts v2.46 POLG Ivone Leong Gene: polg has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.45 ABHD12 Ivone Leong Classified gene: ABHD12 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.45 ABHD12 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; however, the GMS specialist group should review whether this gene should be included in the panel.
Bilateral congenital or childhood onset cataracts v2.45 ABHD12 Ivone Leong Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.44 ABHD12 Ivone Leong Tag for-review tag was added to gene: ABHD12.
Bilateral congenital or childhood onset cataracts v2.44 ABHD12 Ivone Leong Publications for gene: ABHD12 were set to
Bilateral congenital or childhood onset cataracts v2.43 ABHD12 Ivone Leong Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; PHARC syndrome, MONDO:0012984
Bilateral congenital or childhood onset cataracts v2.42 PLOD3 Ivone Leong Classified gene: PLOD3 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.42 PLOD3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for a gene-disease association. Therefore, this gene should be Green at the next review.
Bilateral congenital or childhood onset cataracts v2.42 PLOD3 Ivone Leong Gene: plod3 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.41 PLOD3 Ivone Leong Tag for-review tag was added to gene: PLOD3.
Bilateral congenital or childhood onset cataracts v2.41 SLC16A12 Ivone Leong Classified gene: SLC16A12 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.41 SLC16A12 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.
Bilateral congenital or childhood onset cataracts v2.41 SLC16A12 Ivone Leong Gene: slc16a12 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.40 SLC16A12 Ivone Leong Added comment: Comment on publications: This was originally in the Publications section:
Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed (PMID: 18304496);
Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking;
A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839
Bilateral congenital or childhood onset cataracts v2.40 SLC16A12 Ivone Leong Publications for gene: SLC16A12 were set to Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed; Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking; A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839
Bilateral congenital or childhood onset cataracts v2.39 SLC16A12 Ivone Leong Phenotypes for gene: SLC16A12 were changed from Cataract, juvenile, with microcornea and glucosuria, 612018 to Cataract 47, juvenile, with microcornea, OMIM:612018; juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786
Bilateral congenital or childhood onset cataracts v2.38 COG4 Ivone Leong Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150 to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Bilateral congenital or childhood onset cataracts v2.37 EED Ivone Leong reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bilateral congenital or childhood onset cataracts v2.37 EED Ivone Leong Tag for-review tag was added to gene: EED.
Bilateral congenital or childhood onset cataracts v2.37 EED Ivone Leong Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510
Bilateral congenital or childhood onset cataracts v2.36 GFER Ivone Leong Classified gene: GFER as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.36 GFER Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to promote this gene from Red to Green. This gene should be made Green at the next review.
Bilateral congenital or childhood onset cataracts v2.36 GFER Ivone Leong Gene: gfer has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.35 GFER Ivone Leong Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076 to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Bilateral congenital or childhood onset cataracts v2.34 GFER Ivone Leong Tag for-review tag was added to gene: GFER.
Bilateral congenital or childhood onset cataracts v2.34 GFER Ivone Leong Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076
Bilateral congenital or childhood onset cataracts v2.33 GFER Ivone Leong Publications for gene: GFER were set to Di Fonzo et al (2009) Am J Hum Genet 84:594-604
Bilateral congenital or childhood onset cataracts v2.32 GEMIN4 Ivone Leong Tag watchlist tag was added to gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v2.32 GEMIN4 Ivone Leong Publications for gene: GEMIN4 were set to 27878435; 25558065
Bilateral congenital or childhood onset cataracts v2.31 GEMIN4 Ivone Leong edited their review of gene: GEMIN4: Added comment: On re-reviewing this gene, the mouse model was not a knockout gene model of GEMIN4. PMID: 30237576 is a new publication that describes another case with the same variant as that reported by PMID: 25558065. The affected individual is from the same region as the previous publication. Therefore, there is insufficient evidence to support a gene-disease status and this gene should be downgraded from Green to Amber at the next review.; Changed rating: AMBER; Changed publications: 30237576
Bilateral congenital or childhood onset cataracts v2.31 GEMIN4 Ivone Leong Tag for-review tag was added to gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v2.31 ANAPC1 Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.31 ANAPC1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at next review.
Bilateral congenital or childhood onset cataracts v2.31 ANAPC1 Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.30 ANAPC1 Ivone Leong Tag for-review tag was added to gene: ANAPC1.
Bilateral congenital or childhood onset cataracts v2.30 ANAPC1 Ivone Leong Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM 618625 to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Bilateral congenital or childhood onset cataracts v2.29 INTS1 Ivone Leong Classified gene: INTS1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.29 INTS1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Bilateral congenital or childhood onset cataracts v2.29 INTS1 Ivone Leong Gene: ints1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.28 INTS1 Ivone Leong Tag for-review tag was added to gene: INTS1.
Bilateral congenital or childhood onset cataracts v2.28 INTS1 Ivone Leong Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Bilateral congenital or childhood onset cataracts v2.27 PIK3C2A Ivone Leong Tag for-review tag was added to gene: PIK3C2A.
Bilateral congenital or childhood onset cataracts v2.27 PIK3C2A Ivone Leong Classified gene: PIK3C2A as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.27 PIK3C2A Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene should be Green at the next review.
Bilateral congenital or childhood onset cataracts v2.27 PIK3C2A Ivone Leong Gene: pik3c2a has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.26 PIK3C2A Ivone Leong Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome, 618440 to Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145
Bilateral congenital or childhood onset cataracts v2.25 PANK4 Ivone Leong Classified gene: PANK4 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.25 PANK4 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in Gene2Phenotype but not OMIM. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Bilateral congenital or childhood onset cataracts v2.25 PANK4 Ivone Leong Gene: pank4 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.24 PANK4 Ivone Leong Tag watchlist tag was added to gene: PANK4.
Bilateral congenital or childhood onset cataracts v2.24 NACC1 Ivone Leong Classified gene: NACC1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.24 NACC1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Bilateral congenital or childhood onset cataracts v2.24 NACC1 Ivone Leong Gene: nacc1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.23 NACC1 Ivone Leong Tag for-review tag was added to gene: NACC1.
Bilateral congenital or childhood onset cataracts v2.23 NACC1 Ivone Leong Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306 to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306
Bilateral congenital or childhood onset cataracts v2.22 NACC1 Ivone Leong Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306
Bilateral congenital or childhood onset cataracts v2.21 SREBF1 Ivone Leong Classified gene: SREBF1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.21 SREBF1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Bilateral congenital or childhood onset cataracts v2.21 SREBF1 Ivone Leong Gene: srebf1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.20 SREBF1 Ivone Leong Tag for-review tag was added to gene: SREBF1.
Bilateral congenital or childhood onset cataracts v2.20 SREBF1 Ivone Leong Phenotypes for gene: SREBF1 were changed from Mucoepithelial dysplasia, hereditary, MIM#158310 to Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017
Bilateral congenital or childhood onset cataracts v2.19 PSMC3 Ivone Leong Classified gene: PSMC3 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.19 PSMC3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating.
Bilateral congenital or childhood onset cataracts v2.19 PSMC3 Ivone Leong Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.18 RNPC3 Ivone Leong gene: RNPC3 was added
gene: RNPC3 was added to Cataracts. Sources: Expert Review,Literature
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814
Phenotypes for gene: RNPC3 were set to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; congenital cataracts
Review for gene: RNPC3 was set to RED
Added comment: This gene is an Amber gene on the Growth failure in early childhood panel (v1.16). The following reviews are present for this gene on that panel:

"Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM. The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well.
Ivone Leong (Genomics England Curator), 15 Oct 2020

Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.
Zornitza Stark (Australian Genomics), 5 Oct 2020"

As only 1 affected family has congenital cataracts, this gene is given a Red rating.
Sources: Expert Review, Literature
Bilateral congenital or childhood onset cataracts v2.17 SREBF1 Zornitza Stark gene: SREBF1 was added
gene: SREBF1 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF1 were set to 32497488; 31790666; 32902915
Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310
Review for gene: SREBF1 was set to GREEN
Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.

Needs to be added to skin panels, in addition to the already described IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 phenotype.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.17 GALM Ivone Leong Tag watchlist tag was added to gene: GALM.
Bilateral congenital or childhood onset cataracts v2.17 GALM Ivone Leong Classified gene: GALM as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.17 GALM Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence there is currently not enough evidence to support a gene-disease assocation; therefore, this gene has been given an Amber rating.
Bilateral congenital or childhood onset cataracts v2.17 GALM Ivone Leong Gene: galm has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.16 GALM Ivone Leong Phenotypes for gene: GALM were changed from type IV galactosaemia to Galactosemia IV, 618881
Bilateral congenital or childhood onset cataracts v2.15 NUP188 Arina Puzriakova Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804
Bilateral congenital or childhood onset cataracts v2.14 NUP188 Arina Puzriakova Classified gene: NUP188 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.14 NUP188 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next major review - congenital cataract reported in at least 6 affected individuals (5 unrelated kindreds) due to biallelic truncating variants in NUP188.
Bilateral congenital or childhood onset cataracts v2.14 NUP188 Arina Puzriakova Gene: nup188 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.13 NUP188 Arina Puzriakova Tag for-review tag was added to gene: NUP188.
Bilateral congenital or childhood onset cataracts v2.13 NUP188 Arina Puzriakova reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanova syndrome, 618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.13 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Cataracts. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Gene-disease association is supported by an animal model.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.13 TDRD7 Arina Puzriakova reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 32420594; Phenotypes: Congenital cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.13 TKFC Arina Puzriakova Tag watchlist tag was added to gene: TKFC.
Bilateral congenital or childhood onset cataracts v2.13 TKFC Arina Puzriakova Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, 618805
Bilateral congenital or childhood onset cataracts v2.12 TKFC Arina Puzriakova Classified gene: TKFC as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.12 TKFC Arina Puzriakova Added comment: Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist).
Bilateral congenital or childhood onset cataracts v2.12 TKFC Arina Puzriakova Gene: tkfc has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.11 TKFC Arina Puzriakova reviewed gene: TKFC: Rating: AMBER; Mode of pathogenicity: None; Publications: 32004446; Phenotypes: Triokinase and FMN cyclase deficiency syndrome, 618805; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.11 ATAD3A Ivone Leong Classified gene: ATAD3A as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.11 ATAD3A Ivone Leong Gene: atad3a has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.10 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Cataracts. Sources: Literature
for-review tags were added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307; 28652416; 28158749; 31727539
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183
Review for gene: ATAD3A was set to AMBER
Added comment: Added new gene as Amber for now, but should be promoted to Green (as there is enough evidence for it to be a Green gene) at the next major review.

PMID: 27640307 describes 5 patients from 5 unrelated families with the same de novo variant (c.1582 C>T, R528W). 3/5 patients have optic atrophy and 2/5 have hypertrophic cardiomyopathy (HCM). The authors have suggested that R528W exerts a dominant negative effect.

Three patients from 2 additional families have biallelic variants (1 compound heterozygous and 1 biallelic deletion of ATAD3B and ATAD3A). These 3 patients did not have optic atrophy nor HCM, but had congenital cataracts.

PMID: 31727539 describes a consanguineous family with 4 affected individuals with biallelic variant (c.1217T>G, L406R). 3/4 had congenital cataracts and 4/4 had HCM. No one had optic atrophy.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.9 PISD Arina Puzriakova changed review comment from: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affects sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.; to: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affected sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.
Bilateral congenital or childhood onset cataracts v2.9 PISD Arina Puzriakova Publications for gene: PISD were set to 31263216; 30858161
Bilateral congenital or childhood onset cataracts v2.8 PISD Arina Puzriakova Phenotypes for gene: PISD were changed from Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities to Liberfarb syndrome, 618889
Bilateral congenital or childhood onset cataracts v2.7 PISD Arina Puzriakova Classified gene: PISD as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.7 PISD Arina Puzriakova Added comment: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affects sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.
Bilateral congenital or childhood onset cataracts v2.7 PISD Arina Puzriakova Gene: pisd has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v2.6 PISD Arina Puzriakova edited their review of gene: PISD: Changed publications: 31263216, 30858161, 30488656, 3561949
Bilateral congenital or childhood onset cataracts v2.6 PISD Arina Puzriakova changed review comment from: PMID: 31263216 (2019) - In two sets of brothers from unrelated consanguineous families, sequencing revealed homozygosity for a 10-bp deletion (c.904-12_904-3delCTATCACCAC) in the PISD gene. The patients presented with Liberfarb syndrome, characterised by early-onset retinal degeneration, skeletal dysplasia, short stature, developmental delay, microcephaly, and hearing loss. There was a concern for bilateral cataracts in one patient (patient 3), but a formal ophthalmological evaluation could not be performed. Authors noted phenotypic overlap with another previously described case (PMID: 3561949 (1986)), prompting follow-up investigation using paraffin-embedded tissue which yielded an identical homozygous variant. Haplotype analysis indicated a founder effect between all five individuals.

PMID: 30858161 (2019) - Two sisters with progressive short stature, skeletal dysplasia, white matter abnormalities, congenital cataracts, sensorineural hearing loss, and mild global developmental delay, associated with compound heterozygous variants (c.830G>A and c.697+5G>A) in the PISD gene.

PMID: 30488656 (2019) - Two unrelated individuals with an 'unclassifiable' form of spondyloepimetaphyseal dysplasia, as well as short stature, microcephaly, mild facial dysmorphism. Vision, hearing, and psychomotor development were reported to be normal for both patients. WES identified the same homozygous missense variant (c.797G>A) in PISD in both patients. Analysis revealed a common haplotype, which indicated remote consanguinity. Supporting functional data using patient-derived fibroblasts.; to: Associated with Liberfarb syndrome in OMIM, but not in G2P.

PMID: 31263216 (2019) - In two sets of brothers from unrelated consanguineous families, sequencing revealed homozygosity for a 10-bp deletion (c.904-12_904-3delCTATCACCAC) in the PISD gene. The patients presented with Liberfarb syndrome, characterised by early-onset retinal degeneration, skeletal dysplasia, short stature, developmental delay, microcephaly, and hearing loss. There was a concern for bilateral cataracts in one patient (patient 3), but a formal ophthalmological evaluation could not be performed. Authors noted phenotypic overlap with another previously described case (PMID: 3561949 (1986)), prompting follow-up investigation using paraffin-embedded tissue which yielded an identical homozygous variant. Haplotype analysis indicated a founder effect between all five individuals.

PMID: 30858161 (2019) - Two sisters with progressive short stature, skeletal dysplasia, white matter abnormalities, congenital cataracts, sensorineural hearing loss, and mild global developmental delay, associated with compound heterozygous variants (c.830G>A and c.697+5G>A) in the PISD gene.

PMID: 30488656 (2019) - Two unrelated individuals with an 'unclassifiable' form of spondyloepimetaphyseal dysplasia, as well as short stature, microcephaly, mild facial dysmorphism. Vision, hearing, and psychomotor development were reported to be normal for both patients. WES identified the same homozygous missense variant (c.797G>A) in PISD in both patients. Analysis revealed a common haplotype, which indicated remote consanguinity. Supporting functional data using patient-derived fibroblasts.
Bilateral congenital or childhood onset cataracts v2.6 PISD Arina Puzriakova reviewed gene: PISD: Rating: ; Mode of pathogenicity: None; Publications: 31263216, 30858161, 30488656; Phenotypes: Liberfarb syndrome, 618889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.6 MAFIP Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: MAFIP.
Bilateral congenital or childhood onset cataracts v2.6 MAFIP Eleanor Williams commented on gene: MAFIP
Bilateral congenital or childhood onset cataracts v2.6 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NACC1 were set to 28132692
Phenotypes for gene: NACC1 were set to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)
Review for gene: NACC1 was set to GREEN
gene: NACC1 was marked as current diagnostic
Added comment: 7 unrelated individuals with recurrent de novo heterozygous missense variant c.892C>T p.(Arg298Trp). 5 out of 7 had bilateral cataracts.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 32021605; 28726809; 32275884
Phenotypes for gene: NUP188 were set to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Review for gene: NUP188 was set to GREEN
gene: NUP188 was marked as current diagnostic
Added comment: 8 unrelated individuals reported with bi-allelic variants and a neurodevelopmental phenotype with cataracts.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 PIK3C2A Zornitza Stark reviewed gene: PIK3C2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31034465; Phenotypes: Oculoskeletodental syndrome, MIM# 618440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bilateral congenital or childhood onset cataracts v2.6 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 31263216; 30858161
Phenotypes for gene: PISD were set to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities
Review for gene: PISD was set to GREEN
gene: PISD was marked as current diagnostic
Added comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Review for gene: INTS1 was set to GREEN
gene: INTS1 was marked as current diagnostic
Added comment: At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to type IV galactosaemia
Review for gene: GALM was set to AMBER
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two of the reported individuals had cataracts.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 ANAPC1 Zornitza Stark gene: ANAPC1 was added
gene: ANAPC1 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: Rothmund-Thomson syndrome type 1 is associated with juvenile cataracts. Ajeawung et al (PMID 31303264) described 10 individuals from 7 unrelated families with biallelic ANAPC1 variants, whom all had bilateral juvenile cataracts.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 GEMIN4 Zornitza Stark reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.6 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409522, 25269795, 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.6 EED Zornitza Stark reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v2.6 CTDP1 Zornitza Stark changed review comment from: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK.; to: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK. The gene is Green on the neuropathy and ID panels.
Bilateral congenital or childhood onset cataracts v2.6 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14517542, 24690360; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v2.6 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COG4 were set to 31949312; 30290151
Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150
Review for gene: COG4 was set to GREEN
gene: COG4 was marked as current diagnostic
Added comment: Saul-Wilson syndrome (AD): 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Please note bi-allelic variants cause CDG.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 ABHD12 Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077159, 29571850, 28448692, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bilateral congenital or childhood onset cataracts v2.6 PLOD3 Zornitza Stark gene: PLOD3 was added
gene: PLOD3 was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394
Review for gene: PLOD3 was set to GREEN
gene: PLOD3 was marked as current diagnostic
Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 POLG Zornitza Stark edited their review of gene: POLG: Set current diagnostic: yes
Bilateral congenital or childhood onset cataracts v2.6 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG were set to 20301791; 29358615; 22405928
Phenotypes for gene: POLG were set to POLG-related disorders
Review for gene: POLG was set to GREEN
Added comment: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants. Cataracts have been described as congenital/preceding other clinical manifestations.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 SLC16A12 Zornitza Stark reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 29088427; Phenotypes: Cataract 47, juvenile, with microcornea, MIM# 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v2.6 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Cataracts. Sources: Expert list
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Bilateral congenital or childhood onset cataracts v2.6 RIC1 Sarah Leigh Added comment: Comment on phenotypes: Pediatric posterior lenticonus cataract and global developmental delay
Bilateral congenital or childhood onset cataracts v2.6 RIC1 Sarah Leigh Phenotypes for gene: RIC1 were changed from Pediatric posterior lenticonus cataract and global developmental delay to CATIFA syndrome 618761
Bilateral congenital or childhood onset cataracts v2.5 RIC1 Sarah Leigh Publications for gene: RIC1 were set to 27878435
Bilateral congenital or childhood onset cataracts v2.4 RIC1 Sarah Leigh Classified gene: RIC1 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.4 RIC1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least one variant reported in numerous members of two families, who shared an autozygous interval, confirming Founder effect (PMID 27878435). Segregation was demonstrated, together with supportive functional and zebra fish model (PMID 31932796).
Bilateral congenital or childhood onset cataracts v2.4 RIC1 Sarah Leigh Gene: ric1 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.3 RIC1 Sarah Leigh Tag watchlist tag was added to gene: RIC1.
Bilateral congenital or childhood onset cataracts v2.3 CAPN15 Eleanor Williams Tag watchlist tag was added to gene: CAPN15.
Bilateral congenital or childhood onset cataracts v2.3 CAPN15 Eleanor Williams commented on gene: CAPN15
Bilateral congenital or childhood onset cataracts v2.3 Sarah Leigh Panel version has been signed off
Bilateral congenital or childhood onset cataracts v2.1 PIK3C2A Ivone Leong edited their review of gene: PIK3C2A: Changed rating: GREEN
Bilateral congenital or childhood onset cataracts v2.1 PIK3C2A Ivone Leong changed review comment from: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status.
Sources: Literature; to: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.1 PIK3C2A Ivone Leong gene: PIK3C2A was added
gene: PIK3C2A was added to Cataracts. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440
Review for gene: PIK3C2A was set to RED
Added comment: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.0 Ivone Leong promoted panel to version 2.0
Bilateral congenital or childhood onset cataracts v1.37 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Bilateral congenital or childhood onset cataracts v1.36 KIAA1109 Ivone Leong Classified gene: KIAA1109 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v1.36 KIAA1109 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Red. KIAA1109 is associated with Alkuraya-Kucinskas syndrome and cataracts are a minor feature. As we are not aware of any cases of variants in this gene associated with isolated cataracts, it has been demoted to Red.
Bilateral congenital or childhood onset cataracts v1.36 KIAA1109 Ivone Leong Gene: kiaa1109 has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v1.35 LONP1 Ivone Leong Classified gene: LONP1 as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.35 LONP1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on previous review.
Bilateral congenital or childhood onset cataracts v1.35 LONP1 Ivone Leong Gene: lonp1 has been classified as Green List (High Evidence).
Bilateral congenital or childhood onset cataracts v1.34 GEMIN4 Ivone Leong Classified gene: GEMIN4 as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.34 GEMIN4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on previous review.
Bilateral congenital or childhood onset cataracts v1.34 GEMIN4 Ivone Leong Gene: gemin4 has been classified as Green List (High Evidence).
Bilateral congenital or childhood onset cataracts v1.33 EIF2B2 Ivone Leong Classified gene: EIF2B2 as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.33 EIF2B2 Ivone Leong Gene: eif2b2 has been classified as Green List (High Evidence).
Bilateral congenital or childhood onset cataracts v1.32 RIC1 Ivone Leong Tag founder-effect tag was added to gene: RIC1.
Bilateral congenital or childhood onset cataracts v1.32 TAPT1 Ivone Leong changed review comment from: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with any eye phenotype. It is a green gene on the Fetal anomalies panel (code 478, version 0.339) PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.; to: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with the eyes. It is a green gene on the Fetal anomalies panel (code 478, version 0.339). PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.
Bilateral congenital or childhood onset cataracts v1.32 EIF2B2 Ivone Leong changed review comment from: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; to: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71).
There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 RIC1 Ivone Leong reviewed gene: RIC1: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27878435, 25808063, 26622071, 28148925, 29408517, 25574826; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 TAF1A Ivone Leong reviewed gene: TAF1A: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 TAPT1 Ivone Leong reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 GEMIN4 Ivone Leong reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 DYRK1A Ivone Leong edited their review of gene: DYRK1A: Added comment: DYRK1A is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339), Severe microcephaly (code: 162, version 1.72) and GES (code: 402, version 1.256). PMID: 28053047 analysed approx 4,200 family trios from the DDD study and found 19 patients who have likely pathogenic de novo variants in DYRK1A. All patients have ID and 14 have some sort of eye malformation. However, only 1 of the 14 have bilateral cataracts (missense DYRK1A variant). PMID: 25944381 investigated 14 unrelated individuals with de novo variants in DYRK1A (microdeletions, small indels or SNVs). All individuals have congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. Only 1 patient had cataracts (21q22.13-q22.2 deletion, this region encompasses 30 genes one of which is DYRK1A). Therefore, not enough evidence to be green and rated amber until further evidence is available.; Changed rating: AMBER; Changed publications: 28053047, 25944381
Bilateral congenital or childhood onset cataracts v1.32 KIAA1109 Ivone Leong edited their review of gene: KIAA1109: Added comment: KIAA1109 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Structural eye disease panel (code: 509, version 0.84), ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339) and GES (code: 402, version 1.256). PMID: 29290337 reported on 10 unrelated families who have Alkuraya-Ku?inskas syndrome with biallelic variants in KIAA1109. 2 of 10 families (Chinese and Algerian) with affected members also having congenital cataracts. The same paper also produced a zebrafish model but there was no mention of any eye defects. PMID: 30906834 reported on a non-consanguineous African American family where two siblings had congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. The two siblings also had congenital cataracts and were compound heterozygous for variants in this gene. There is enough evidence for this gene to be green on this panel.; Changed publications: 29290337, 30906834
Bilateral congenital or childhood onset cataracts v1.32 AP4B1 Ivone Leong edited their review of gene: AP4B1: Added comment: AP4B1 is associated with an unrelated phenotype on OMIM and Gene2Phenotype. There is only 1 case (PMID: 29430868) so currently there is not enough evidence to promote this gene to green status.; Changed rating: RED; Changed publications: 29430868
Bilateral congenital or childhood onset cataracts v1.32 XYLT2 Ivone Leong edited their review of gene: XYLT2: Added comment: XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.; Changed publications: 26027496, 26987875, 28884924, 30496831, 29136277
Bilateral congenital or childhood onset cataracts v1.32 GLS Ivone Leong edited their review of gene: GLS: Added comment: GLS is associated with a phenotype on OMIM but not on Gene2Phenotype. There is only one published case (PMID: 30239721) who had infantile cataracts who had a heterozygote variant in this gene. The same paper also created a zebrafish model of this variant and it caused cataracts in the fish. However, until more evidence is available this gene will be rated amber.; Changed rating: AMBER; Changed publications: 30239721
Bilateral congenital or childhood onset cataracts v1.32 GTF2H5 Ivone Leong edited their review of gene: GTF2H5: Added comment: GTF2H5 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (code: 77, version 1.8). There are 3 unrelated cases (PMID: 24986372; 15220921) of patients with Trichothiodystrophy 3, photosensitive who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 24986372, 15220921
Bilateral congenital or childhood onset cataracts v1.32 EIF2B2 Ivone Leong edited their review of gene: EIF2B2: Added comment: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 21484434, 14566705, 28041799
Bilateral congenital or childhood onset cataracts v1.32 DNMBP Ivone Leong edited their review of gene: DNMBP: Added comment: DNMBP is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 30290152 reported on 3 unrelated consanguineous families from Pakistan where affected family members have congenital cataracts. All three families have different variants. The authors also created a Drosophila knockdown model and showed the mechanism by which DNMBP causes cataracts. There is enough evidence for this gene to be green.; Changed publications: 30290152
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong edited their review of gene: WFS1: Added comment: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; Changed publications: 28468959, 21067485, 23531866, 21623599, 27217304, 23373429, 27468121, 28271591, 16151413
Bilateral congenital or childhood onset cataracts v1.32 LSS Ivone Leong edited their review of gene: LSS: Added comment: LSS is associated with a phenotype on OMIM but not Gene2Phenotype. There are 3 unrelated cases of children with cataracts who have variants in this gene (PMID: 26200641; 29016354; 16440058). Therefore there is enough evidence for this gene to be green.; Changed publications: 26200641, 29016354, 16440058
Bilateral congenital or childhood onset cataracts v1.31 DYRK1A Ivone Leong reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 KIAA1109 Ivone Leong reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 AP4B1 Ivone Leong reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 XYLT2 Ivone Leong reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 GLS Ivone Leong reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 GTF2H5 Ivone Leong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 EIF2B2 Ivone Leong reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 DNMBP Ivone Leong reviewed gene: DNMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 LSS Ivone Leong reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.30 RIC1 Ivone Leong gene: RIC1 was added
gene: RIC1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 27878435
Phenotypes for gene: RIC1 were set to Pediatric posterior lenticonus cataract and global developmental delay
Bilateral congenital or childhood onset cataracts v1.30 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 25574826; 26622071; 27878435; 29408517; 25808063; 28148925
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Bilateral congenital or childhood onset cataracts v1.30 TAF1A Ivone Leong gene: TAF1A was added
gene: TAF1A was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1A were set to 27878435
Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay
Bilateral congenital or childhood onset cataracts v1.30 TAPT1 Ivone Leong gene: TAPT1 was added
gene: TAPT1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 27878435
Phenotypes for gene: TAPT1 were set to Pediatric posterior lenticonus cataract
Bilateral congenital or childhood onset cataracts v1.30 GEMIN4 Ivone Leong gene: GEMIN4 was added
gene: GEMIN4 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Bilateral congenital or childhood onset cataracts v1.30 DYRK1A Ivone Leong gene: DYRK1A was added
gene: DYRK1A was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 28053047; 25944381
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, 614104
Bilateral congenital or childhood onset cataracts v1.30 KIAA1109 Ivone Leong gene: KIAA1109 was added
gene: KIAA1109 was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 29290337; 30906834
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822; Brain atrophy, Dandy Walker and Contractures
Bilateral congenital or childhood onset cataracts v1.30 AP4B1 Ivone Leong gene: AP4B1 was added
gene: AP4B1 was added to Cataracts. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 29430868
Phenotypes for gene: AP4B1 were set to AP-4 deficiency syndrome and ocular anomalies
Bilateral congenital or childhood onset cataracts v1.30 XYLT2 Ivone Leong gene: XYLT2 was added
gene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822
Bilateral congenital or childhood onset cataracts v1.30 GLS Ivone Leong gene: GLS was added
gene: GLS was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: GLS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLS were set to 30239721
Phenotypes for gene: GLS were set to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339
Bilateral congenital or childhood onset cataracts v1.30 GTF2H5 Ivone Leong gene: GTF2H5 was added
gene: GTF2H5 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 24986372; 15220921
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395
Bilateral congenital or childhood onset cataracts v1.30 EIF2B2 Ivone Leong gene: EIF2B2 was added
gene: EIF2B2 was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 28041799; 21484434; 14566705
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Bilateral congenital or childhood onset cataracts v1.30 DNMBP Ivone Leong gene: DNMBP was added
gene: DNMBP was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMBP were set to 30290152
Phenotypes for gene: DNMBP were set to Cataract 48, 618415
Bilateral congenital or childhood onset cataracts v1.30 WFS1 Ivone Leong gene: WFS1 was added
gene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121
Phenotypes for gene: WFS1 were set to ?Cataract 41, 116400
Bilateral congenital or childhood onset cataracts v1.30 LSS Ivone Leong gene: LSS was added
gene: LSS was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 16440058; 29016354; 26200641
Phenotypes for gene: LSS were set to Cataract 44, 616509
Bilateral congenital or childhood onset cataracts v1.29 RNLS Ivone Leong Publications for gene: RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962
Bilateral congenital or childhood onset cataracts v1.28 Ivone Leong List of related panels changed from to R31
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Classified gene: LCAT as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Added comment: Comment on list classification: Upgraded based on curator review and expert advice.
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Gene: lcat has been classified as Green List (High Evidence).
Bilateral congenital or childhood onset cataracts v1.25 FBN1 Anna de Burca reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: 12525539; Phenotypes: WEILL-MARCHESANI SYNDROME 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v1.25 EYA1 Eleanor Williams Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780 to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780
Bilateral congenital or childhood onset cataracts v1.24 ISPD Louise Daugherty commented on gene: ISPD
Bilateral congenital or childhood onset cataracts v1.24 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Bilateral congenital or childhood onset cataracts v1.24 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Bilateral congenital or childhood onset cataracts v1.23 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Bilateral congenital or childhood onset cataracts v1.21 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Bilateral congenital or childhood onset cataracts TMEM5 Louise Daugherty commented on TMEM5
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh classified SIPA1L3 as amber
Bilateral congenital or childhood onset cataracts EED Sarah Leigh classified EED as green
Bilateral congenital or childhood onset cataracts EED Sarah Leigh added EED to panel
Bilateral congenital or childhood onset cataracts EED Sarah Leigh reviewed EED
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh classified HTRA2 as green
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh added HTRA2 to panel
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh reviewed HTRA2
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh added SIPA1L3 to panel
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh reviewed SIPA1L3
Bilateral congenital or childhood onset cataracts CRYBB1 Owen Siggs reviewed CRYBB1
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh commented on PRX
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh added PRX to panel
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh reviewed PRX
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh classified MSMO1 as green
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh added MSMO1 to panel
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh reviewed MSMO1
Bilateral congenital or childhood onset cataracts LCAT Sarah Leigh added LCAT to panel
Bilateral congenital or childhood onset cataracts LCAT Sarah Leigh reviewed LCAT
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh classified INPP5K as green
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh added INPP5K to panel
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh reviewed INPP5K
Bilateral congenital or childhood onset cataracts MIR184 Ellen McDonagh edited their review of MIR184
Bilateral congenital or childhood onset cataracts CRYGFP Ellen McDonagh commented on CRYGFP
Bilateral congenital or childhood onset cataracts PVRL3 Louise Daugherty commented on PVRL3
Bilateral congenital or childhood onset cataracts LARGE Louise Daugherty commented on LARGE
Bilateral congenital or childhood onset cataracts B3GALTL Louise Daugherty commented on B3GALTL
Bilateral congenital or childhood onset cataracts PVRL3 Ellen McDonagh edited their review of PVRL3