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Structural eye disease v4.37 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Structural eye disease v4.36 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Structural eye disease v4.35 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Structural eye disease v4.35 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Structural eye disease v4.35 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome 9, 258865 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
Structural eye disease v4.34 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Structural eye disease v4.34 KIAA0556 Arina Puzriakova Tag new-gene-name tag was added to gene: KIAA0556.
Structural eye disease v4.34 FOXD3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As the evidence for the association of FOXDe3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update.; to: Comment on list classification: As the evidence for the association of FOXD3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Structural eye disease v4.34 FOXD3 Achchuthan Shanmugasundram Tag disputed tag was added to gene: FOXD3.
Structural eye disease v4.34 FOXD3 Achchuthan Shanmugasundram Classified gene: FOXD3 as Green List (high evidence)
Structural eye disease v4.34 FOXD3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As the evidence for the association of FOXDe3 gene with eye disorder is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Structural eye disease v4.34 FOXD3 Achchuthan Shanmugasundram Gene: foxd3 has been classified as Green List (High Evidence).
Structural eye disease v4.33 FOXD3 Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: FOXD3.
Tag Q3_25_demote_red tag was added to gene: FOXD3.
Structural eye disease v4.33 FOXD3 Achchuthan Shanmugasundram reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: 22815627; Phenotypes: aniridia, MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.33 RDH5 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed 15th October 2025
Structural eye disease v4.33 RDH5 Eleanor Williams Phenotypes for gene: RDH5 were changed from Fundus albipunctatus, 136880; Eye Disorders to Fundus albipunctatus, OMIM:136880 fundus albipunctatus, MONDO:0007639
Structural eye disease v4.32 DHX38 Arina Puzriakova Phenotypes for gene: DHX38 were changed from Retinitis pigmentosa 84, OMIM:618220 to Retinitis pigmentosa 84, OMIM:618220; coloboma of macula, MONDO:0007351
Structural eye disease v4.31 DHX38 Arina Puzriakova Phenotypes for gene: DHX38 were changed from Retinitis Pigmentosa and Macular Coloboma, 618220 to Retinitis pigmentosa 84, OMIM:618220
Structural eye disease v4.30 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Cerebrooculofacioskeletal syndrome 4, 610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Structural eye disease v4.29 VSX2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is associated with Microphthalmia, isolated 2, OMIM:610093 and Microphthalmia/coloboma 3, OMIM:610092 (accessed on 30-09-2025)
Structural eye disease v4.29 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
Structural eye disease v4.28 UNC119 Arina Puzriakova Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy; Immunodeficiency 13, 615518; Eye Disorders to Cone-rod dystrophy 24, OMIM:620342
Structural eye disease v4.27 NTN1 Ida Ertmanska edited their review of gene: NTN1: Changed phenotypes to: microphthalmia, isolated, with coloboma, MONDO:0000170
Structural eye disease v4.27 NTN1 Ida Ertmanska changed review comment from: As reviewed by Hannah Knight, PMID: 39648562 (Toms et al., 2024) reports a patient with chorioretinal coloboma and microphthalmia, heterozygous for NM_004822.3:c.1483T>A p.(Tyr495Asn). The patient (Female, 30 years old, White British) also had bilateral sensorineural hearing loss and right hand polydactyly. The C-terminus variant is not found in gnomAD v4.1.0; in silico prediction tools: Revel score = 0.5 (Uncertain), AlphaMissense score = 0.806 (Deleterious Supporting); predicted NMD escape (https://www.deciphergenomics.org/gene/NTN1/overview/protein-genomic-info).

Confoundingly, patients with congenital mirror movements from 3 families reported in PMID: 28945198 (Meneret et al., 2017) who also harboured heterozygous NTN1 variants at the C-terminal end (p.Cys601Arg, p.Ile518del, p.Cys601Ser) had normal eyesight, no oculomotor abnormalities, and no hearing impairment.

Mouse, chick, and zebrafish models provide good evidence for NTN1's function in optic fissure fusion:
In PMID: 39648562, morpholino knockdown of ntn1a in zebrafish (86% gene similarity to human ortholog) had ocular coloboma and sensory hair cell defects.
PMID: 31162046 (Hardy et al.,2019): Gene knockdown in zebrafish, using sgRNA targeting the first exon of ntn1. Homozygous knockouts were phenotypic; meanwhile heterozygous fish had no ocular abnormalities. Ntn1-/- mice also displayed highly penetrant ocular coloboma (10/11). Transcriptomic profiling in chick embryos showed that NTN1 is expressed in the chick optic fissure closure.

This gene appears to be intolerant to LoF variants (NTN1 pLI score = 1). NTN1 is associated with Mirror movements 4, OMIM:618264 (OMIM entry accessed 10th Sep 2025).

Based on the available evidence, this gene can only be rated Amber for Structural eye disease.; to: As reviewed by Hannah Knight, PMID: 39648562 (Toms et al., 2024) reports a patient with chorioretinal coloboma and microphthalmia, heterozygous for a de novo variant in NTN1: NM_004822.3:c.1483T>A p.(Tyr495Asn). Sequencing method: WGS.The patient (Female, 30 years old, White British) also had bilateral sensorineural hearing loss and right hand polydactyly. The C-terminus variant is not found in gnomAD v4.1.0; in silico prediction tools: Revel score = 0.5 (Uncertain), AlphaMissense score = 0.806 (Deleterious Supporting); predicted NMD escape (https://www.deciphergenomics.org/gene/NTN1/overview/protein-genomic-info).

Confoundingly, patients with congenital mirror movements from 3 families reported in PMID: 28945198 (Meneret et al., 2017) who also harboured heterozygous NTN1 variants at the C-terminal end (p.Cys601Arg, p.Ile518del, p.Cys601Ser) had normal eyesight, no oculomotor abnormalities, and no hearing impairment.

Mouse, chick, and zebrafish models provide good evidence for NTN1's function in optic fissure fusion:
In PMID: 39648562, morpholino knockdown of ntn1a in zebrafish (86% gene similarity to human ortholog) had ocular coloboma and sensory hair cell defects.
PMID: 31162046 (Hardy et al.,2019): Gene knockdown in zebrafish, using sgRNA targeting the first exon of ntn1. Homozygous knockouts were phenotypic; meanwhile heterozygous fish had no ocular abnormalities. Ntn1-/- mice also displayed highly penetrant ocular coloboma (10/11). Transcriptomic profiling in chick embryos showed that NTN1 is expressed in the chick optic fissure closure.

This gene appears to be intolerant to LoF variants (NTN1 pLI score = 1). NTN1 is associated with Mirror movements 4, OMIM:618264 (OMIM entry accessed 10th Sep 2025).

Based on the available evidence, this gene can only be rated Amber for Structural eye disease.
Structural eye disease v4.27 NTN1 Eleanor Williams Phenotypes for gene: NTN1 were changed from microphthalmia, isolated, with coloboma, MONDO:0000170 to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Structural eye disease v4.26 NTN1 Eleanor Williams Phenotypes for gene: NTN1 were changed from Chorioretinal Coloboma; Sensorineural Hearing Loss; Polydactyly to microphthalmia, isolated, with coloboma, MONDO:0000170
Structural eye disease v4.25 NTN1 Eleanor Williams Publications for gene: NTN1 were set to PMID: 39648562
Structural eye disease v4.24 NTN1 Eleanor Williams Classified gene: NTN1 as Amber List (moderate evidence)
Structural eye disease v4.24 NTN1 Eleanor Williams Added comment: Comment on list classification: Updating the rating to amber. One case with a relevant phenotype plus some functional data from zebrafish. Note that there are cases reported with missense variants in the C-terminus of this gene, that do not exhibit the eye phenotype.
Structural eye disease v4.24 NTN1 Eleanor Williams Gene: ntn1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.23 MYH10 Achchuthan Shanmugasundram Classified gene: MYH10 as Amber List (moderate evidence)
Structural eye disease v4.23 MYH10 Achchuthan Shanmugasundram Added comment: Comment on list classification: Four of six patients from three unrelated families were reported with monoallelic MYH10 variants and ocular coloboma. In addition, functional evidence from patient fibroblasts and delayed eye development in zebrafish model support the association.

However, this gene should be currently rated amber as coloboma was not consistently reported in all six patents from PMID:40044823 and was entirely absent in the previously reported cohort with neurodevelopmental phenotype (PMID:35980381).

The 'watchlist' tag has been added to review this gene for any new evidence in the future.
Structural eye disease v4.23 MYH10 Achchuthan Shanmugasundram Gene: myh10 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.22 MYH10 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: MYH10.
Structural eye disease v4.22 MYH10 Achchuthan Shanmugasundram Phenotypes for gene: MYH10 were changed from Autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features to neurodevelopmental disorder, MONDO:0700092; coloboma, MONDO:0001476
Structural eye disease v4.21 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, coloboma, MONDO:0001476
Structural eye disease v4.21 MYH10 Achchuthan Shanmugasundram Publications for gene: MYH10 were set to PMID: 40044823
Structural eye disease v4.20 MYH10 Achchuthan Shanmugasundram Deleted their comment
Structural eye disease v4.20 MYH10 Achchuthan Shanmugasundram changed review comment from: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient.

PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model.

This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM>; to: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient.

PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model.

This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM.
Structural eye disease v4.20 MYH10 Achchuthan Shanmugasundram commented on gene: MYH10: PMID:35980381 (2022) reported a cohort of 16 individuals with 14 unique heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders. Eye-related phenotypes were relatively minor with ptosis in 3 patients, refractive errors in four and chorioretinal lacunae in one patient.

PMID:40044823 (2025) reported six individuals from three unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features, and identified with 3 novel heterozygous variants (one of missense, splice site and one AA deletion) in the tail domain of MYH10 gene via exome or genome sequencing. However, no neurodevelopmental disorders as usually observed in this syndrome were detected. Iris and choreoretinal coloboma was reported in four of six individuals from three unrelated families (2/3 patients from family 1, 1/2 patients from family 2 and the only patient from family 3). Heterozygous variant in HOXD13 gene was identified in both mother and son from family 2, which was reported to explain their extremities anomalies. In addition, MYH10 dysfunction led to delayed development of the eye and muscular phenotype in the zebrafish model.

This gene has been currently rated Amber on Anophthalmia_Microphthalmia_Coloboma panel (https://panelapp-aus.org/panels/42/gene/MYH10/) in PanelApp Australia based on the evidence from PMID:40044823. This gene has also been rated 'moderate' on the DD panel based on the neurodevelopmental phenotype. However, it has not yet been associated with any relevant phenotypes in OMIM>
Structural eye disease v4.20 MYH10 Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: None; Publications: 35980381, 40044823; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.20 NTN1 Ida Ertmanska commented on gene: NTN1: Comment on list classification: There is one patient reported in literature with structural eye disease (coloboma and microphthalmia), heterozygous for a C-terminus missense variant in NTN1. At least 3 other patients, heterozygous for C-terminus NTN1 variants, had no ocular abnormalities. Gene knockouts in zebrafish and mouse embryos resulted in ocular coloboma phenotype, supporting the gene's role in eye development. Based on the available evidence, NTN1 should be rated Amber for Structural eye disease.
Structural eye disease v4.20 NTN1 Ida Ertmanska reviewed gene: NTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39648562, 31162046; Phenotypes: Associated with Mirror movements 4, OMIM:618264, microphthalmia, isolated, with coloboma, MONDO:0000170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram changed review comment from: PMID:37541189 reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals. The only patient with the p.(Arg99Gln) missense variant had bilateral colobomatous microphthalmia and bilateral cochlear malformations.

PMID:40004505 reported the identification of the same missense variant (p.(Arg99Gln)) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. The clinical phenotype of this individual fit that of the previously described individual with the same variant from PMID:37541189, and only partially overlaps with the clinical spectrum of the disease. There is some functional evidence available for this variant from in silico structural modelling.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature; to: PMID:37541189 (2023) reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals. The only patient with the p.(Arg99Gln) missense variant had bilateral colobomatous microphthalmia and bilateral cochlear malformations.

PMID:40004505 (2025) reported the identification of the same missense variant (p.(Arg99Gln)) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. The clinical phenotype of this individual fit that of the previously described individual with the same variant from PMID:37541189, and only partially overlaps with the clinical spectrum of the disease. There is some functional evidence available for this variant from in silico structural modelling.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram changed review comment from: PMID:37541189 reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals. The only patient with the p.(Arg99Gln) variant had bilateral colobomatous microphthalmia and bilateral cochlear malformations.

PMID:40004505 reported the identification of the same missense variant (p.(Arg99Gln)) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. The clinical phenotype of this individual fit that of the previously described individual with the same variant from PMID:37541189, and only partially overlaps with the clinical spectrum of the disease. There is some functional evidence available for this variant from in silico structural modelling.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature; to: PMID:37541189 reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals. The only patient with the p.(Arg99Gln) missense variant had bilateral colobomatous microphthalmia and bilateral cochlear malformations.

PMID:40004505 reported the identification of the same missense variant (p.(Arg99Gln)) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. The clinical phenotype of this individual fit that of the previously described individual with the same variant from PMID:37541189, and only partially overlaps with the clinical spectrum of the disease. There is some functional evidence available for this variant from in silico structural modelling.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are only two unrelated patients reported with monoallelic HNRNPC variants and bilateral colobomatous microphthalmia. They were both identified with the same missense variant and only in silico structural modelling data available for the variant. Hence, this gene can only be rated amber with the current evidence.; to: Comment on list classification: There are only two unrelated patients reported with monoallelic HNRNPC variants and bilateral colobomatous microphthalmia. They were both identified with the same missense variant, the only functional evidence available for this variant is from in silico structural modelling. Hence, this gene can only be rated amber with the current evidence.
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram Classified gene: HNRNPC as Amber List (moderate evidence)
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two unrelated patients reported with monoallelic HNRNPC variants and bilateral colobomatous microphthalmia. They were both identified with the same missense variant and only in silico structural modelling data available for the variant. Hence, this gene can only be rated amber with the current evidence.
Structural eye disease v4.20 HNRNPC Achchuthan Shanmugasundram Gene: hnrnpc has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.19 HNRNPC Achchuthan Shanmugasundram gene: HNRNPC was added
gene: HNRNPC was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPC were set to 37541189; 40004505
Phenotypes for gene: HNRNPC were set to Intellectual developmental disorder, autosomal dominant 74, OMIM:620688; microphthalmia, isolated, with coloboma, MONDO:0000170
Review for gene: HNRNPC was set to AMBER
Added comment: PMID:37541189 reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals. The only patient with the p.(Arg99Gln) variant had bilateral colobomatous microphthalmia and bilateral cochlear malformations.

PMID:40004505 reported the identification of the same missense variant (p.(Arg99Gln)) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. The clinical phenotype of this individual fit that of the previously described individual with the same variant from PMID:37541189, and only partially overlaps with the clinical spectrum of the disease. There is some functional evidence available for this variant from in silico structural modelling.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature
Structural eye disease v4.18 NTN1 Hannah Knight gene: NTN1 was added
gene: NTN1 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTN1 were set to PMID: 39648562
Phenotypes for gene: NTN1 were set to Chorioretinal Coloboma; Sensorineural Hearing Loss; Polydactyly
Review for gene: NTN1 was set to AMBER
Added comment: PMID: 39648562 reported a patient with chorioretinal coloboma and microphthalmia who carried a heterozygous NTN1 variant, c.1483T>A p.(Tyr495Asn). Patient also had bilateral sensorineural hearing loss which was investigated by examining the sensory hair cells of ntn1a morphant zebrafish, suggesting a role for netrin‐1 in hair cell development.

NTN1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.
Sources: Literature
Structural eye disease v4.18 MYH10 Hannah Knight gene: MYH10 was added
gene: MYH10 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to PMID: 40044823
Phenotypes for gene: MYH10 were set to Autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features
Review for gene: MYH10 was set to GREEN
Added comment: PMID: 40044823 reported six individuals from 3 unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features suggesting Baraitser-Winter cerebrofrontofacial syndrome. No neurodevelopmental features.
3 novel heterozygous variants in the MYH10 gene reported.
Sources: Literature
Structural eye disease v4.18 FOXE3 Arina Puzriakova Phenotypes for gene: FOXE3 were changed from Anterior segment mesenchymal dysgenesis, OMIM:107250; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968
Structural eye disease v4.17 FOXE3 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: FOXE3.
Tag Q3_25_MOI tag was added to gene: FOXE3.
Structural eye disease v4.17 FOXE3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from ' BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next GMS panel update.

As highlighted in review by Dorine Bax, at least 6 cases with heterozygous variants and cataracts and/or anterior segment dysgenesis have been reported, which appear to represent a spectrum of disease rather than separate disease entities. Both presentations are relevant to this panel and therefore should be included. AD inheritance is discussed in ClinGen and OMIM curations of this gene-disease association. Cases with AR inheritance generally have more severe presentation.
Structural eye disease v4.17 FOXE3 Arina Puzriakova Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v4.16 FOXE3 Arina Puzriakova Tag watchlist_moi was removed from gene: FOXE3.
Tag Q3_25_promote_green tag was added to gene: FOXE3.
Tag Q3_25_NHS_review tag was added to gene: FOXE3.
Structural eye disease v4.16 NR6A1 Achchuthan Shanmugasundram Classified gene: NR6A1 as Amber List (moderate evidence)
Structural eye disease v4.16 NR6A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Structural eye disease v4.16 NR6A1 Achchuthan Shanmugasundram Gene: nr6a1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.15 NR6A1 Achchuthan Shanmugasundram Phenotypes for gene: NR6A1 were changed from microphthalmia, coloboma to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Structural eye disease v4.14 NR6A1 Achchuthan Shanmugasundram Publications for gene: NR6A1 were set to PMID: 40610405
Structural eye disease v4.13 NR6A1 Achchuthan Shanmugasundram Mode of inheritance for gene: NR6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.12 NR6A1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NR6A1.
Tag Q3_25_NHS_review tag was added to gene: NR6A1.
Structural eye disease v4.12 NR6A1 Achchuthan Shanmugasundram reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40610405; Phenotypes: coloboma, MONDO:0001476, microphthalmia, MONDO:0021129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.12 EFEMP1 Achchuthan Shanmugasundram Classified gene: EFEMP1 as Amber List (moderate evidence)
Structural eye disease v4.12 EFEMP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic EFEMP1 variants with glaucoma, which fits into the scope of this panel. Hence, this gene can be promoted to green rating in the next GMS update.
Structural eye disease v4.12 EFEMP1 Achchuthan Shanmugasundram Gene: efemp1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.11 EFEMP1 Achchuthan Shanmugasundram Phenotypes for gene: EFEMP1 were changed from Doyne honeycomb degeneration of retina, 126600; Eye Disorders to Glaucoma 1, open angle, H, OMIM:611276
Structural eye disease v4.10 EFEMP1 Achchuthan Shanmugasundram Publications for gene: EFEMP1 were set to
Structural eye disease v4.9 EFEMP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: EFEMP1.
Structural eye disease v4.9 EFEMP1 Achchuthan Shanmugasundram reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glaucoma 1, open angle, H, OMIM:611276; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v4.9 NR6A1 Siying Lin gene: NR6A1 was added
gene: NR6A1 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR6A1 were set to PMID: 40610405
Phenotypes for gene: NR6A1 were set to microphthalmia, coloboma
Penetrance for gene: NR6A1 were set to Incomplete
Mode of pathogenicity for gene: NR6A1 was set to Other
Review for gene: NR6A1 was set to GREEN
Added comment: PMID 40610405: 6 unrelated families with autosomal dominant syndromic form of colobomatous microphthalmia and missing vertebrae with or without congenital kidney abnormalities
Sources: Literature
Structural eye disease v4.9 CYP1B1 Arina Puzriakova Phenotypes for gene: CYP1B1 were changed from Primary Congenital Glaucoma; Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; GLC3A; primary congenital glaucoma; 231300 to Anterior segment dysgenesis 6, multiple subtypes, OMIML617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, OMIM:231300; Primary Congenital Glaucoma
Structural eye disease v4.8 ARR3 Sarah Leigh changed review comment from: Six ARR3 variant have been seen in seven unrelated families with Myopia 26, X-linked, female-limited, OMIM:301010. The inheritance of the causative ARR3 variants is X‐linked female limited, in that only the female carriers of the variant display the phenotype - OMIM:301010 (PMID: 35001458;33482870;27829781).; to: Six ARR3 variants have been seen in seven unrelated families with Myopia 26, X-linked, female-limited (OMIM:301010). The inheritance of the causative ARR3 variants is X‐linked female limited, in that only the female carriers of the variant display the phenotype - OMIM:301010 (PMID: 35001458;33482870;27829781).
Structural eye disease v4.8 ARR3 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: ARR3.
Structural eye disease v4.8 ARR3 Sarah Leigh Added comment: Comment on mode of inheritance: X‐linked female limited
Structural eye disease v4.8 ARR3 Sarah Leigh Mode of inheritance for gene: ARR3 was changed from Other to Other
Structural eye disease v4.7 ARR3 Sarah Leigh reviewed gene: ARR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other
Structural eye disease v4.7 ARR3 Sarah Leigh Publications for gene: ARR3 were set to 35001458
Structural eye disease v4.6 ARR3 Sarah Leigh Phenotypes for gene: ARR3 were changed from to Myopia 26, X-linked, female-limited, OMIM:301010; myopia 26, X-linked, female-limited, MONDO:0049221
Structural eye disease v4.5 ARR3 Sarah Leigh Classified gene: ARR3 as Amber List (moderate evidence)
Structural eye disease v4.5 ARR3 Sarah Leigh Gene: arr3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.4 TOMM7 Sarah Leigh Added comment: Comment on publications: PMID: 39615461 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Structural eye disease v4.4 TOMM7 Sarah Leigh Publications for gene: TOMM7 were set to 39615461
Structural eye disease v4.3 TOMM7 Sarah Leigh Classified gene: TOMM7 as Amber List (moderate evidence)
Structural eye disease v4.3 TOMM7 Sarah Leigh Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Structural eye disease v4.2 TOMM7 Sarah Leigh gene: TOMM7 was added
gene: TOMM7 was added to Structural eye disease. Sources: Literature
Q1_25_ promote_green tags were added to gene: TOMM7.
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to 39615461
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601
Review for gene: TOMM7 was set to GREEN
Added comment: Ocular features are reported in nine members of seven unrelated Chinese families, who all are homozygous for the same TOMM7 variant ( NM_019059.5:c.86C>T; NP_061932.1:p.P29L)(PMID: 39615461). The common features were Maculopathy (7/9 individuals), Amblyobia (6/9 individuals) and hyperopia (6/9 individuals).
Sources: Literature
Structural eye disease v4.1 FOXE3 Dorine Bax reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21150893, 9708017, 34046667; Phenotypes: HP:0007700, HP:0000568, HP:0007707, HP:0000589, HP:0000519; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v4.1 EFEMP1 Cassandra Smith reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34923728, 38083999, 32476818; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-08-07
Structural eye disease v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Structural eye disease v3.79 MIR184 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184.
Structural eye disease v3.79 ARHGAP35 Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP35.
Structural eye disease v3.79 SMG8 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SMG8.
Tag Q4_23_NHS_review was removed from gene: SMG8.
Structural eye disease v3.79 SLC25A24 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SLC25A24.
Tag Q4_23_NHS_review was removed from gene: SLC25A24.
Structural eye disease v3.79 RHOA Arina Puzriakova Tag Q4_23_promote_green was removed from gene: RHOA.
Tag Q4_23_NHS_review was removed from gene: RHOA.
Structural eye disease v3.79 OFD1 Arina Puzriakova Tag Q3_23_promote_green was removed from gene: OFD1.
Tag Q3_23_NHS_review was removed from gene: OFD1.
Structural eye disease v3.79 NUP188 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: NUP188.
Tag Q4_23_NHS_review was removed from gene: NUP188.
Structural eye disease v3.79 MIR204 Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MIR204.
Tag Q3_23_NHS_review was removed from gene: MIR204.
Structural eye disease v3.79 KIF11 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KIF11.
Tag Q4_23_NHS_review was removed from gene: KIF11.
Structural eye disease v3.79 KIAA0586 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KIAA0586.
Tag Q4_23_NHS_review was removed from gene: KIAA0586.
Structural eye disease v3.79 KDM6A Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KDM6A.
Tag Q4_23_NHS_review was removed from gene: KDM6A.
Structural eye disease v3.79 EPHA2 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: EPHA2.
Tag Q4_23_MOI was removed from gene: EPHA2.
Tag Q4_23_NHS_review was removed from gene: EPHA2.
Structural eye disease v3.79 CRYBB2 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CRYBB2.
Tag Q4_23_NHS_review was removed from gene: CRYBB2.
Structural eye disease v3.79 BMPR1B Arina Puzriakova Tag Q4_23_promote_green was removed from gene: BMPR1B.
Tag Q4_23_NHS_review was removed from gene: BMPR1B.
Structural eye disease v3.79 ARHGAP35 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ARHGAP35.
Tag Q4_23_NHS_review was removed from gene: ARHGAP35.
Structural eye disease v3.79 ANK3 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ANK3.
Tag Q4_23_NHS_review was removed from gene: ANK3.
Structural eye disease v3.79 ALX1 Arina Puzriakova Tag Q3_23_promote_green was removed from gene: ALX1.
Tag Q3_23_NHS_review was removed from gene: ALX1.
Structural eye disease v3.79 SMG8 Arina Puzriakova reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.79 SLC25A24 Arina Puzriakova reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 RHOA Arina Puzriakova reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v3.79 OFD1 Arina Puzriakova reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.79 NUP188 Arina Puzriakova reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.79 MIR204 Arina Puzriakova reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 KIF11 Arina Puzriakova reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 KIAA0586 Arina Puzriakova reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.79 KDM6A Arina Puzriakova reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.79 EPHA2 Arina Puzriakova reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v3.79 CRYBB2 Arina Puzriakova reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 BMPR1B Arina Puzriakova reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 ARHGAP35 Arina Puzriakova reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 ANK3 Arina Puzriakova reviewed gene: ANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.79 ALX1 Arina Puzriakova reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.78 SMG8 Arina Puzriakova Source NHS GMS was added to SMG8.
Source Expert Review Green was added to SMG8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 SLC25A24 Arina Puzriakova Source Expert Review Green was added to SLC25A24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 RHOA Arina Puzriakova Source NHS GMS was added to RHOA.
Source Expert Review Green was added to RHOA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 OFD1 Arina Puzriakova Source Expert Review Green was added to OFD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 NUP188 Arina Puzriakova Source NHS GMS was added to NUP188.
Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 MIR204 Arina Puzriakova Source Expert Review Green was added to MIR204.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 KIF11 Arina Puzriakova Source Expert Review Green was added to KIF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 KIAA0586 Arina Puzriakova Source NHS GMS was added to KIAA0586.
Source Expert Review Green was added to KIAA0586.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 KDM6A Arina Puzriakova Source Expert Review Green was added to KDM6A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 EPHA2 Arina Puzriakova Source Expert Review Green was added to EPHA2.
Mode of inheritance for gene EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 CRYBB2 Arina Puzriakova Source Expert Review Green was added to CRYBB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 BMPR1B Arina Puzriakova Source NHS GMS was added to BMPR1B.
Source Expert Review Green was added to BMPR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 ARHGAP35 Arina Puzriakova Source NHS GMS was added to ARHGAP35.
Source Expert Review Green was added to ARHGAP35.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 ANK3 Arina Puzriakova Source NHS GMS was added to ANK3.
Source Expert Review Green was added to ANK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.78 ALX1 Arina Puzriakova Source Expert Review Green was added to ALX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v3.77 LIM2 Arina Puzriakova Phenotypes for gene: LIM2 were changed from Cataract 19, 615277 to Cataract 19, multiple types, OMIM:615277
Structural eye disease v3.76 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
Structural eye disease v3.76 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Coloboma, None to Microphthalmia/coloboma 11, OMIM:620731
Structural eye disease v3.75 FZD5 Arina Puzriakova Tag gene-checked was removed from gene: FZD5.
Structural eye disease v3.75 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, IP, 308300 to Incontinentia pigmenti, OMIM:308300
Structural eye disease v3.74 CNGA1 Arina Puzriakova Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, 613756; Eye Disorders to Retinitis pigmentosa 49, OMIM:613756
Structural eye disease v3.73 OPTN Arina Puzriakova Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, OMIM:137760; {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Adult-onset
Structural eye disease v3.72 GDF3 Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: GDF3.
Tag Q4_23_expert_review was removed from gene: GDF3.
Structural eye disease v3.72 SLC25A24 Achchuthan Shanmugasundram Classified gene: SLC25A24 as Amber List (moderate evidence)
Structural eye disease v3.72 SLC25A24 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Structural eye disease v3.72 SLC25A24 Achchuthan Shanmugasundram Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.71 SLC25A24 Achchuthan Shanmugasundram Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094
Structural eye disease v3.70 SLC25A24 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.69 SLC25A24 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: SLC25A24.
Structural eye disease v3.69 SLC25A24 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC25A24.
Structural eye disease v3.69 SLC25A24 Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys).; to: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys). Both these variants are on the same amino acid. However, these cases were from people of multiple descent/ geographic locations. Experiments from patient-derived fibroblasts demonstrated that SLC25A24 variants lead to mitochondrial dysfunction with increased sensitivity to oxidative stress.
Structural eye disease v3.69 SLC25A24 Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T p.Arg217Cys; to: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys).
Structural eye disease v3.69 SLC25A24 Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100093, 31775791; Phenotypes: Fontaine progeroid syndrome, OMIM:612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.69 KIF11 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KIF11.
Tag Q4_23_NHS_review tag was added to gene: KIF11.
Structural eye disease v3.69 KIF11 Achchuthan Shanmugasundram Classified gene: KIF11 as Amber List (moderate evidence)
Structural eye disease v3.69 KIF11 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Structural eye disease v3.69 KIF11 Achchuthan Shanmugasundram Gene: kif11 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.68 KIF11 Achchuthan Shanmugasundram Phenotypes for gene: KIF11 were changed from Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950 to Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950
Structural eye disease v3.67 KIF11 Achchuthan Shanmugasundram Publications for gene: KIF11 were set to 27212378
Structural eye disease v3.66 KIF11 Achchuthan Shanmugasundram Mode of inheritance for gene: KIF11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.65 KIF11 Achchuthan Shanmugasundram reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.65 KIAA0586 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Structural eye disease v3.65 KIAA0586 Achchuthan Shanmugasundram Classified gene: KIAA0586 as Amber List (moderate evidence)
Structural eye disease v3.65 KIAA0586 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Structural eye disease v3.65 KIAA0586 Achchuthan Shanmugasundram Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.64 KIAA0586 Achchuthan Shanmugasundram Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23, OMIM:616490; Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Structural eye disease v3.63 KIAA0586 Achchuthan Shanmugasundram Publications for gene: KIAA0586 were set to 30055837
Structural eye disease v3.62 KIAA0586 Achchuthan Shanmugasundram Mode of inheritance for gene: KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.61 KIAA0586 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KIAA0586.
Tag Q4_23_NHS_review tag was added to gene: KIAA0586.
Structural eye disease v3.61 KIAA0586 Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 23, OMIM:616490, Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.61 CRYBB2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CRYBB2.
Tag Q4_23_NHS_review tag was added to gene: CRYBB2.
Structural eye disease v3.61 CRYBB2 Achchuthan Shanmugasundram Classified gene: CRYBB2 as Amber List (moderate evidence)
Structural eye disease v3.61 CRYBB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Structural eye disease v3.61 CRYBB2 Achchuthan Shanmugasundram Gene: crybb2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.60 CRYBB2 Achchuthan Shanmugasundram Publications for gene: CRYBB2 were set to 29386872
Structural eye disease v3.59 CRYBB2 Achchuthan Shanmugasundram Phenotypes for gene: CRYBB2 were changed from Cataract 3, multiple types, 601547 to Cataract 3, multiple types, OMIM:601547
Structural eye disease v3.58 CRYBB2 Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.58 KIF11 Hannah Knight reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281367; Phenotypes: Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.58 KIAA0586 Hannah Knight reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055837, 36580738, 28125082; Phenotypes: Joubert syndrome 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.58 CRYBB2 Hannah Knight reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29386872, 25489230, 21402992, 2240043, 9158139; Phenotypes: Cataract 3, multiple types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.58 SLC25A24 Hannah Knight reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: None; Publications: 31775791; Phenotypes: Fontaine progeroid syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.58 NRL Arina Puzriakova Phenotypes for gene: NRL were changed from Retinitis pigmentosa 27, 613750; Eye Disorders to Retinitis pigmentosa 27, OMIM:613750
Structural eye disease v3.57 GDF3 Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: GDF3.
Tag Q4_23_expert_review tag was added to gene: GDF3.
Structural eye disease v3.57 GDF3 Sarah Leigh changed review comment from: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below.
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
• rs140926412
• https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease
• PMID: 19864492; 29260090
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)
• rs146973734
• https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
• rs387906946
• https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia and coloboma
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
• rs387906945
• https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease
• PMID: 19864492 three cases:
o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance.
o 1 patient (2.2) unaffected father of 2.1
o 1 patient with Bilateral iris coloboma
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
• rs566697767
• https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 24281366
o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel
o 1 patient unaffected father of the patient above

As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications.; to: A total of five GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below.
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
• rs140926412
• https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease
• PMID: 19864492; 29260090
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)
• rs146973734
• https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
• rs387906946
• https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia and coloboma
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
• rs387906945
• https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease
• PMID: 19864492 three cases:
o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance.
o 1 patient (2.2) unaffected father of 2.1
o 1 patient with Bilateral iris coloboma
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
• rs566697767
• https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 24281366
o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel
o 1 patient unaffected father of the patient above

As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications.
Structural eye disease v3.57 GDF3 Sarah Leigh changed review comment from: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below.
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
• rs140926412
• https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease
• PMID: 19864492; 29260090
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)
• rs146973734
• https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
• rs387906946
• https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia and coloboma
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
• rs387906945
• https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease
• PMID: 19864492 three cases:
o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance.
o 1 patient (2.2) unaffected father of 2.1
o 1 patient with Bilateral iris coloboma
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
• rs566697767
• https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 24281366
o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel
o 1 patient unaffected father of the patient above

As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro), leading to the assertion the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers in these publications.; to: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below.
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
• rs140926412
• https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease
• PMID: 19864492; 29260090
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)
• rs146973734
• https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
• rs387906946
• https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia and coloboma
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
• rs387906945
• https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease
• PMID: 19864492 three cases:
o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance.
o 1 patient (2.2) unaffected father of 2.1
o 1 patient with Bilateral iris coloboma
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
• rs566697767
• https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 24281366
o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel
o 1 patient unaffected father of the patient above

As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications.
Structural eye disease v3.57 GDF3 Sarah Leigh Deleted their comment
Structural eye disease v3.57 GDF3 Sarah Leigh edited their review of gene: GDF3: Added comment: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below.
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
• rs140926412
• https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease
• PMID: 19864492; 29260090
NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)
• rs146973734
• https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
• rs387906946
• https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 19864492 one patient with Unilateral microphthalmia and coloboma
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
• rs387906945
• https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease
• PMID: 19864492 three cases:
o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance.
o 1 patient (2.2) unaffected father of 2.1
o 1 patient with Bilateral iris coloboma
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
• rs566697767
• https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4
• gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease
• PMID: 24281366
o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel
o 1 patient unaffected father of the patient above

As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro), leading to the assertion the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers in these publications.; Changed rating: AMBER
Structural eye disease v3.57 GDF3 Sarah Leigh Publications for gene: GDF3 were set to 19864492; 29260090
Structural eye disease v3.56 GDF3 Sarah Leigh Deleted their comment
Structural eye disease v3.56 GDF3 Sarah Leigh Tag Q4_23_promote_green was removed from gene: GDF3.
Tag Q4_23_NHS_review was removed from gene: GDF3.
Structural eye disease v3.56 GDF3 Zornitza Stark changed review comment from: p.Arg266Cys is present in >4,000 individuals in gnomad v4, casting serious doubts about pathogenicity.; to: p.Arg266Cys is present in >4,000 individuals in gnomad v4, casting serious doubts about pathogenicity.

p.Arg195Gln is present in 239 individuals which is also very high even for 'variable penetrance'.

p.Arg274Trp is present in 156.

p.Leu305Pro in 349. Also classified 'benign' in ClinVar.

p.Pro325Leu in 77.
Structural eye disease v3.56 GDF3 Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.56 RHOA Sarah Leigh Tag watchlist was removed from gene: RHOA.
Tag mosaicism tag was added to gene: RHOA.
Tag Q4_23_promote_green tag was added to gene: RHOA.
Tag Q4_23_NHS_review tag was added to gene: RHOA.
Structural eye disease v3.56 RHOA Sarah Leigh changed review comment from: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).; to: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).
Structural eye disease v3.56 RHOA Sarah Leigh edited their review of gene: RHOA: Added comment: RHOA variants have been associated with ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic (OMIM:618727). Ocular involvement has been reported at least three unrelated cases carrying different RHOA variants (PMID: 31821646; 31570889; 35178721).; Changed rating: GREEN
Structural eye disease v3.56 RHOA Sarah Leigh Classified gene: RHOA as Amber List (moderate evidence)
Structural eye disease v3.56 RHOA Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.56 RHOA Sarah Leigh Gene: rhoa has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.55 RHOA Sarah Leigh Publications for gene: RHOA were set to 31821646; 31570889
Structural eye disease v3.54 PQBP1 Sarah Leigh reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.54 PQBP1 Sarah Leigh Phenotypes for gene: PQBP1 were changed from Renpenning syndrome (can include microphthalmia/coloboma), 309500 to Renpenning syndrome, OMIM:309500; Renpenning syndrome, MONDO:0010653
Structural eye disease v3.53 PQBP1 Sarah Leigh Publications for gene: PQBP1 were set to 17033686
Structural eye disease v3.52 NUP188 Sarah Leigh Tag watchlist was removed from gene: NUP188.
Tag Q4_23_promote_green tag was added to gene: NUP188.
Tag Q4_23_NHS_review tag was added to gene: NUP188.
Structural eye disease v3.52 NUP188 Sarah Leigh edited their review of gene: NUP188: Added comment: NUP188 biallelic terminating variants have been associated with Sandestig-Stefanova syndrome (OMIM:618804). PMID: 36158057 describes the first male case of Sandestig-Stefanova syndrome and presents a literature review, that shows that microphthalmia (8/8 cases) and bilateral congenital cataracts (6/8 cases) are commonly reported in patients with biallelic NUP188 variants.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.52 NUP188 Sarah Leigh Classified gene: NUP188 as Amber List (moderate evidence)
Structural eye disease v3.52 NUP188 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.52 NUP188 Sarah Leigh Gene: nup188 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.51 NUP188 Sarah Leigh Publications for gene: NUP188 were set to 32021605; 32275884
Structural eye disease v3.50 KDM6A Sarah Leigh Tag Skewed X-inactivation tag was added to gene: KDM6A.
Tag Q4_23_promote_green tag was added to gene: KDM6A.
Tag Q4_23_NHS_review tag was added to gene: KDM6A.
Structural eye disease v3.50 KDM6A Sarah Leigh Publications for gene: KDM6A were set to 22197486; 29617172; 29300383; 23076834; 24664873; 36672956
Structural eye disease v3.49 KDM6A Sarah Leigh changed review comment from: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.; to: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.
Skewed X-inactivation has also been reported at this locus (PMID: 22197486, 23913813).
Structural eye disease v3.49 KDM6A Sarah Leigh edited their review of gene: KDM6A: Added comment: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v3.49 KDM6A Sarah Leigh Classified gene: KDM6A as Amber List (moderate evidence)
Structural eye disease v3.49 KDM6A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.49 KDM6A Sarah Leigh Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.46 KDM6A Sarah Leigh Publications for gene: KDM6A were set to 29617172; 29300383; 36672956
Structural eye disease v3.45 KDM6A Sarah Leigh Phenotypes for gene: KDM6A were changed from Kabuki Syndrome 2, KABUK2, 300867 to Kabuki syndrome 2, OMIM:300867; Kabuki syndrome 2, MONDO:0010465
Structural eye disease v3.44 KDM6A Sarah Leigh Publications for gene: KDM6A were set to 29617172; 29300383
Structural eye disease v3.43 GDF3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: GDF3.
Tag Q4_23_NHS_review tag was added to gene: GDF3.
Structural eye disease v3.43 GDF3 Sarah Leigh Classified gene: GDF3 as Amber List (moderate evidence)
Structural eye disease v3.43 GDF3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.43 GDF3 Sarah Leigh Gene: gdf3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.42 GDF3 Sarah Leigh reviewed gene: GDF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.42 GDF3 Sarah Leigh Phenotypes for gene: GDF3 were changed from Klippel-Feil Syndrome3, 613702; Klippel-Feil syndrome 3, autosomal dominant, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 to Klippel-Feil syndrome 3, autosomal dominant, OMIM:613702; Klippel-Feil syndrome 3, autosomal dominant, MONDO:0013375; Microphthalmia with coloboma 6, OMIM:613703; microphthalmia, isolated, with coloboma 6, MONDO:0013376; Microphthalmia, isolated 7, OMIM:613704; isolated microphthalmia 7, MONDO:0013377
Structural eye disease v3.41 GDF3 Sarah Leigh Publications for gene: GDF3 were set to 19864492
Structural eye disease v3.40 EPHA2 Sarah Leigh changed review comment from: EPHA2 variants are associated with Cataract 6, multiple types (OMIM:116600) and as definitive Gen2Phen gene for the same condition. PMID: 35918037 presents a review numerous EPHA2 variants and their associated phenotypes, together with a report of a syndromic complex microphthalmia with iris hypoplasia caused compound heterozygous EPHA2 variants. Various ocular features are reported, including microphthalmia, congenital cataracts, nystagmus, microcornea (PMID: 35918037, table 1). This article also highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1.; to: EPHA2 variants are associated with Cataract 6, multiple types (OMIM:116600) and as definitive Gen2Phen gene for the same condition. PMID: 35918037 presents a review numerous EPHA2 variants and their associated phenotypes, together with a report of a syndromic complex microphthalmia with iris hypoplasia caused compound heterozygous EPHA2 variants. Various ocular features are reported, including microphthalmia, congenital cataracts, nystagmus, microcornea (PMID: 35918037, table 1).
Structural eye disease v3.40 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.
Structural eye disease v3.40 EPHA2 Sarah Leigh Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.39 EPHA2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: EPHA2.
Tag Q4_23_MOI tag was added to gene: EPHA2.
Tag Q4_23_NHS_review tag was added to gene: EPHA2.
Structural eye disease v3.39 EPHA2 Sarah Leigh reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.39 EPHA2 Sarah Leigh Publications for gene: EPHA2 were set to
Structural eye disease v3.38 EPHA2 Sarah Leigh Phenotypes for gene: EPHA2 were changed from Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600
Structural eye disease v3.37 SMG8 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SMG8.
Tag Q4_23_NHS_review tag was added to gene: SMG8.
Structural eye disease v3.37 SMG8 Sarah Leigh commented on gene: SMG8: SMG8 variants are associated with Alzahrani-Kuwahara syndrome (OMIM:619268) and as strong Gen2Phen gene for the same condition. So far four validated variants have been reported (PMID: 33242396& 34761517) in unrelated cases of OMIM:619268. An ocular phenotype was observed in three of these cases (strabismus, cataract & microphthalmia).
Structural eye disease v3.37 SMG8 Sarah Leigh Classified gene: SMG8 as Amber List (moderate evidence)
Structural eye disease v3.37 SMG8 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.37 SMG8 Sarah Leigh Gene: smg8 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.36 SMG8 Sarah Leigh Classified gene: SMG8 as Amber List (moderate evidence)
Structural eye disease v3.36 SMG8 Sarah Leigh Gene: smg8 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.35 SMG8 Sarah Leigh Phenotypes for gene: SMG8 were changed from Alzahrani-Kuwahara syndrome to Alzahrani-Kuwahara syndrome, OMIM:619268
Structural eye disease v3.34 SMG8 Sarah Leigh Publications for gene: SMG8 were set to 34761517
Structural eye disease v3.33 SMG9 Sarah Leigh Publications for gene: SMG9 were set to 27018474; 33242396
Structural eye disease v3.32 SMG9 Sarah Leigh Publications for gene: SMG9 were set to 27018474
Structural eye disease v3.31 PDGFRA Sarah Leigh reviewed gene: PDGFRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.31 CDH4 Sarah Leigh changed review comment from: CDH4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35034853 identified a monoallelic CDH4 variant in a case with unilateral right iris coloboma and intellectual disability, postnatal
and microcephaly. In situ hybridization showed that cdh4 was expressed in the ciliary marginal zone and
periocular mesenchyme cells in zebrafish embryos at 48 & 56 hpf (PMID: 35034853, Fig S1) and cdh4 morphants displayed
microphthalmia (FigS3), together with pleiotropic developmental defects. PMID: 15918170 had previously reported evidence of brain disorganization in a cdh4 knockdown zebrafish.; to: CDH4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35034853 identified a monoallelic CDH4 variant in a case with unilateral right iris coloboma and intellectual disability, postnatal
and microcephaly. In situ hybridization showed that cdh4 was expressed in the ciliary marginal zone and
periocular mesenchyme cells in zebrafish embryos at 48 & 56 hpf (PMID: 35034853, Fig S1) and knockdown of cdh4 morphants displayed microphthalmia (FigS3), together with pleiotropic developmental defects. PMID: 15918170 had previously reported evidence of brain disorganization in a cdh4 knockdown zebrafish.
Structural eye disease v3.31 PDGFRA Sarah Leigh Classified gene: PDGFRA as Amber List (moderate evidence)
Structural eye disease v3.31 PDGFRA Sarah Leigh Gene: pdgfra has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.30 CDH4 Sarah Leigh Publications for gene: CDH4 were set to 35034853
Structural eye disease v3.29 CDH4 Sarah Leigh reviewed gene: CDH4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.29 CDH4 Sarah Leigh Classified gene: CDH4 as Amber List (moderate evidence)
Structural eye disease v3.29 CDH4 Sarah Leigh Gene: cdh4 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.28 BMPR1B Sarah Leigh Tag Q4_23_promote_green tag was added to gene: BMPR1B.
Tag Q4_23_NHS_review tag was added to gene: BMPR1B.
Structural eye disease v3.28 BMPR1B Sarah Leigh Classified gene: BMPR1B as Amber List (moderate evidence)
Structural eye disease v3.28 BMPR1B Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.28 BMPR1B Sarah Leigh Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.27 BMPR1B Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:609441, OMIM:616849 or OMIM:112600.
Structural eye disease v3.27 BMPR1B Sarah Leigh Phenotypes for gene: BMPR1B were changed from Ocular coloboma to Ocular coloboma
Structural eye disease v3.26 BMPR1B Sarah Leigh commented on gene: BMPR1B
Structural eye disease v3.26 ANK3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ANK3.
Tag Q4_23_NHS_review tag was added to gene: ANK3.
Structural eye disease v3.26 ANK3 Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence)
Structural eye disease v3.26 ANK3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.26 ANK3 Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.25 ANK3 Sarah Leigh edited their review of gene: ANK3: Added comment: ANK3 variants have been associated with Intellectual developmental disorder, autosomal recessive 37 (OMIM:615493), however, this phenotype does not include Ocular coloboma to date. PMID: 35034853 reports two monoallelic ANK3 variants in two cases whose phenotype includes ocular coloboma. The authors also present supportive ank3 knockdown experiments in zebrafish, which revealed a coloboma and/or microphthalmia phenotype.; Changed rating: GREEN
Structural eye disease v3.25 ANK3 Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:615493.
Structural eye disease v3.25 ANK3 Sarah Leigh Phenotypes for gene: ANK3 were changed from Ocular coloboma to Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
Structural eye disease v3.24 ANK3 Sarah Leigh Publications for gene: ANK3 were set to 35034853
Structural eye disease v3.23 ANK3 Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence)
Structural eye disease v3.23 ANK3 Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ARHGAP35.
Tag Q4_23_NHS_review tag was added to gene: ARHGAP35.
Structural eye disease v3.22 ARHGAP35 Sarah Leigh edited their review of gene: ARHGAP35: Added comment: ARHGAP35 variants are not associated with a phenotype in OMIM, but ARHGAP35 has definitive association with ARHGAP35-related developmental disorder (monoallelic) in Gen2Phen gene. PMID: 36450800 reports four monoallelic ARHGAP35 variants in four unrelated cases.; Changed rating: GREEN
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Classified gene: ARHGAP35 as Amber List (moderate evidence)
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.21 ALX1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALX1.
Tag Q3_23_NHS_review tag was added to gene: ALX1.
Structural eye disease v3.21 ALX1 Sarah Leigh Classified gene: ALX1 as Amber List (moderate evidence)
Structural eye disease v3.21 ALX1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.21 ALX1 Sarah Leigh Gene: alx1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.20 ALX1 Sarah Leigh reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.20 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578; 27324866; 32914578
Structural eye disease v3.19 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578; 27324866
Structural eye disease v3.18 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578
Structural eye disease v3.17 ALX1 Sarah Leigh Deleted their review
Structural eye disease v3.17 ALX1 Sarah Leigh Deleted their comment
Structural eye disease v3.17 ALX1 Sarah Leigh Added comment: Comment on phenotypes: Frontonasal dysplasia 3, OMIM:613456;frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Structural eye disease v3.17 ALX1 Sarah Leigh Phenotypes for gene: ALX1 were changed from Frontonasal Dysplasia 3, FND3, 613456 to Frontonasal dysplasia 3, OMIM:613456; frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Structural eye disease v3.16 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813
Structural eye disease v3.15 OFD1 Sarah Leigh edited their review of gene: OFD1: Added comment: OFD1 variants have been associated with Joubert syndrome 10 (OMIM:300804) and as definitive Gen2Phen gene for the same condition. Ocular colobomas have been seen in at least four male patients with hemizygous OFD1 variants (PMIDs 28173652;35398350;30895720;28505061) and microphthalmia was seen in one case (PMID: 30895720).; Changed rating: GREEN
Structural eye disease v3.15 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Structural eye disease v3.14 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Structural eye disease v3.13 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179
Structural eye disease v3.12 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720
Structural eye disease v3.11 OFD1 Sarah Leigh Classified gene: OFD1 as Amber List (moderate evidence)
Structural eye disease v3.11 OFD1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.11 OFD1 Sarah Leigh Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.10 OFD1 Sarah Leigh Phenotypes for gene: OFD1 were changed from ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; X-linked Joubert syndrome; Oral-facial-digital syndrome I to Joubert syndrome 10, OMIM:300804; Joubert syndrome 10, MONDO:0010431
Structural eye disease v3.9 OFD1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: OFD1.
Tag Q3_23_NHS_review tag was added to gene: OFD1.
Structural eye disease v3.9 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652
Structural eye disease v3.8 MIR204 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204.
Tag Q3_23_NHS_review tag was added to gene: MIR204.
Structural eye disease v3.8 MIR204 Sarah Leigh Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.
Structural eye disease v3.8 MIR204 Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v3.7 MIR204 Sarah Leigh Classified gene: MIR204 as Amber List (moderate evidence)
Structural eye disease v3.7 MIR204 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.7 MIR204 Sarah Leigh Gene: mir204 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.6 MIR204 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: MIR204.
Structural eye disease v3.6 MIR204 Sarah Leigh Publications for gene: MIR204 were set to 26056285
Structural eye disease v3.5 MIR204 Sarah Leigh reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.5 MIR204 Sarah Leigh Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722 to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Structural eye disease v3.4 OFD1 Hannah Knight reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35398350, 30895720; Phenotypes: Joubert syndrome 10, 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.4 KDM6A Hannah Knight reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36672956; Phenotypes: Kabuki syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v3.4 PQBP1 Hannah Knight reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31718390; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.4 RHOA Hannah Knight reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35178721; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 SMG8 Hannah Knight gene: SMG8 was added
gene: SMG8 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 34761517
Phenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome
Review for gene: SMG8 was set to AMBER
Added comment: PMID: 34761517 describe a patient with Alzahrani-Kuwahara syndrome and unilateral microphthalmia.
There is some evidence that SMG9 may cause microphthalmia (PMID: 27018474), and these two genes work together
Sources: Literature
Structural eye disease v3.4 NUP188 Hannah Knight reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 36158057; Phenotypes: Sandestig-Stefanova syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 GDF3 Hannah Knight reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29260090; Phenotypes: Klippel-Feil Syndrome 3, Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 EPHA2 Hannah Knight reviewed gene: EPHA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35918037; Phenotypes: Bilateral microphthalmia, microcornea, congenital cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v3.4 ARHGAP35 Hannah Knight gene: ARHGAP35 was added
gene: ARHGAP35 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 36450800
Phenotypes for gene: ARHGAP35 were set to Anophthalmia; microphthalmia; coloboma
Review for gene: ARHGAP35 was set to GREEN
Added comment: Novel damaging variants in ARHGAP35 were identified in five individuals with developmental ocular disorders from four families
Family 1 - father and daughter with microphthalmia. c.4251delC p.(Thr1418Argfs*381) shared by both affected individuals. This variant was not present in five unaffected family members: mother, brother, paternal grandmother, and two paternal aunts
Family 2 - simplex case of a boy with corneal opacity with cataract, iris hypoplasia, and glaucoma treated with keratoprostheses. De novo variant identified c.4444delC p.(Gln1482Serfs*317)
Family 3 - simplex case of a boy with bilateral microphthalmia. De novo variant identified c.1849C > T p.(Arg617Ter)
Family 4 - adult male patient with bilateral anophthalmia. Trio exome sequencing identified a novel variant in ARHGAP35, c.4294 T > C p.(Cys1432Arg), inherited from the father, who did not have a MAC phenotype but was reported to wear glasses from a young age with no further details available. Labelled as a VUS
Sources: Literature
Structural eye disease v3.4 PDGFRA Hannah Knight gene: PDGFRA was added
gene: PDGFRA was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRA were set to 35034853
Phenotypes for gene: PDGFRA were set to Bilateral chorioretinal coloboma, microphthalmia and global developmental delay
Review for gene: PDGFRA was set to AMBER
Added comment: PMID: 35034853 - patient with bilateral chorioretinal coloboma and microphthalmia as well as global developmental delay with autistic behavior. Heterozygous variant in PDGFRA found - NM_006206.6:c.1295C>T, p.(Thr432Met). Not found in unaffected mother
Knockdown of pdgfaa and pdgfab in zebrafish caused a severe coloboma phenotype
Sources: Literature
Structural eye disease v3.4 CDH4 Hannah Knight gene: CDH4 was added
gene: CDH4 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH4 were set to 35034853
Phenotypes for gene: CDH4 were set to Iris coloboma, intellectual disability, and microcephaly
Review for gene: CDH4 was set to AMBER
Added comment: PMID: 35034853 - patient with an iris coloboma, intellectual disability, and microcephaly. Heterozygous variant in CDH4 found - NM_001794.5:c.1291C>T, p.(Arg431Cys). Not found in unaffected mother
Knockdown of cdh4 in zebrafish led to ocular maldevelopment (as has been previously reported)
Sources: Literature
Structural eye disease v3.4 BMPR1B Hannah Knight gene: BMPR1B was added
gene: BMPR1B was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 35034853
Phenotypes for gene: BMPR1B were set to Ocular coloboma
Review for gene: BMPR1B was set to GREEN
Added comment: Four unrelated families with BMPR1B variants reported:
1. Two affected siblings with bilateral optic disc coloboma. Mother confirmed heterozygote - NM_001203.2:c.272G>T, p.(Arg91Ile)
2. Single proband with unilateral right microphthalmia, right dense cataract and persistent hyperplastic primary vitreous. No family history. De novo variant - NM_001203.2:c.1127G>A, p.(Arg376Glu)
3. Patient with bilateral iris and chorioretinal coloboma - c.671G>A, p.(Arg224His)
4. Patient with right iris and bilateral chorioretinal coloboma - c.671G>T, p.(Arg224Leu)
Sources: Literature
Structural eye disease v3.4 ALX1 Hannah Knight reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914578; Phenotypes: Frontonasal Dysplasia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.4 ANK3 Hannah Knight gene: ANK3 was added
gene: ANK3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK3 were set to 35034853
Phenotypes for gene: ANK3 were set to Ocular coloboma
Review for gene: ANK3 was set to AMBER
Added comment: PMID: 35034853 identified two patients with ocular coloboma, each with a different heterozygous missense mutation in ANK3. In one of these families, the variant was confirmed as de novo. In the other, the unaffected mother was confirmed not to carry it.
Knockdown of ank3a and ank3b in zebrafish resulted in microphthalmia and penetrant coloboma phenotype
Sources: Literature
Structural eye disease v3.4 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to 29100093
Structural eye disease v3.3 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Structural eye disease v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Structural eye disease v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Structural eye disease v2.3 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1.
Structural eye disease v2.3 WLS Achchuthan Shanmugasundram Tag Q1_22_NHS_review was removed from gene: WLS.
Tag Q2_22_rating was removed from gene: WLS.
Structural eye disease v2.3 TMEM5 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: TMEM5.
Tag Q2_22_NHS_review was removed from gene: TMEM5.
Structural eye disease v2.3 PACS1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PACS1.
Tag Q2_22_NHS_review was removed from gene: PACS1.
Structural eye disease v2.3 HHAT Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: HHAT.
Tag Q1_22_NHS_review was removed from gene: HHAT.
Structural eye disease v2.3 GJA1 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: GJA1.
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram Tag Q2_21_NHS_review was removed from gene: CRIM1.
Tag Q2_22_rating was removed from gene: CRIM1.
Structural eye disease v2.3 WLS Achchuthan Shanmugasundram reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 TMEM5 Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 PACS1 Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 HHAT Achchuthan Shanmugasundram reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 GJA1 Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.2 WLS Achchuthan Shanmugasundram Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 TMEM5 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Source NHS GMS was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Source NHS GMS was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 GJA1 Achchuthan Shanmugasundram Mode of inheritance for gene GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v2.2 CRIM1 Achchuthan Shanmugasundram Source Expert Review Green was added to CRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Structural eye disease v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Structural eye disease v1.152 DDX58 Eleanor Williams commented on gene: DDX58
Structural eye disease v1.152 DDX58 Eleanor Williams Tag new-gene-name tag was added to gene: DDX58.
Structural eye disease v1.152 FAM126A Eleanor Williams commented on gene: FAM126A
Structural eye disease v1.152 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
Structural eye disease v1.152 GRN Arina Puzriakova Phenotypes for gene: GRN were changed from CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706; Eye Disorders to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
Structural eye disease v1.151 TYR Arina Puzriakova Phenotypes for gene: TYR were changed from [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Eye Disorders; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Structural eye disease v1.150 TYR Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.149 ARR3 Dmitrijs Rots gene: ARR3 was added
gene: ARR3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ARR3 was set to Other
Publications for gene: ARR3 were set to 35001458
Penetrance for gene: ARR3 were set to unknown
Review for gene: ARR3 was set to AMBER
Added comment: 3 multigenerational families with X-linked dominant, female limited high myopia reported in 35001458. Each family has different trucating variant in ARR3
Sources: Literature
Structural eye disease v1.149 TSC2 Eleanor Williams commented on gene: TSC2
Structural eye disease v1.149 TSC2 Eleanor Williams Tag Q1_22_NHS_review was removed from gene: TSC2.
Structural eye disease v1.149 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 24285566
Structural eye disease v1.148 RAX Sarah Leigh Phenotypes for gene: RAX were changed from Anophthalmia/Microphthalmia to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604
Structural eye disease v1.147 RAX Sarah Leigh Publications for gene: RAX were set to 24033328; 14662654; 18783408
Structural eye disease v1.146 NR2F1 Eleanor Williams Classified gene: NR2F1 as Red List (low evidence)
Structural eye disease v1.146 NR2F1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red as 1 case reported.
Structural eye disease v1.146 NR2F1 Eleanor Williams Gene: nr2f1 has been classified as Red List (Low Evidence).
Structural eye disease v1.145 NR2F1 Eleanor Williams Mode of pathogenicity for gene: NR2F1 was changed from Other to None
Structural eye disease v1.144 NR2F1 Eleanor Williams changed review comment from: As Samantha Malka reports PMID:34787370 (Gazdagh et al 2022) report a severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) in a patient with a de novo missense variant in the start codon of the NR2F1 gene. The patient showed a typical BBSOAS phenotype with developmental delay, seizures, optic atrophy however this patient also had colobomas and septo-optic dysplasia.; to: As Samantha Malka comments PMID:34787370 (Gazdagh et al 2022) report a severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) in a patient with a de novo missense variant in the start codon of the NR2F1 gene. The patient showed a typical BBSOAS phenotype with developmental delay, seizures, optic atrophy however this patient also had colobomas and septo-optic dysplasia.
Structural eye disease v1.144 NR2F1 Eleanor Williams commented on gene: NR2F1
Structural eye disease v1.144 NR2F1 Eleanor Williams Publications for gene: NR2F1 were set to PMID: 34787370
Structural eye disease v1.143 NR2F1 Eleanor Williams Phenotypes for gene: NR2F1 were changed from Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722; Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320
Structural eye disease v1.142 KIF7 Eleanor Williams Classified gene: KIF7 as Red List (low evidence)
Structural eye disease v1.142 KIF7 Eleanor Williams Added comment: Comment on list classification: Leaving rating as red. Although a second case with a variant in KIF7 is reported in Niceta et al (2020) the patient also has a homozygous variant in KIAA0556.
Structural eye disease v1.142 KIF7 Eleanor Williams Gene: kif7 has been classified as Red List (Low Evidence).
Structural eye disease v1.141 KIF7 Eleanor Williams Publications for gene: KIF7 were set to 21633164
Structural eye disease v1.140 KIAA0556 Eleanor Williams Classified gene: KIAA0556 as Red List (low evidence)
Structural eye disease v1.140 KIAA0556 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red as one case reported with structural eye phenotype but the individual also had a biallelic variant in KIF7.
Structural eye disease v1.140 KIAA0556 Eleanor Williams Gene: kiaa0556 has been classified as Red List (Low Evidence).
Structural eye disease v1.139 KIAA0556 Eleanor Williams Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Structural eye disease v1.138 KIAA0556 Eleanor Williams Publications for gene: KIAA0556 were set to PMID: 32164589
Structural eye disease v1.137 EP300 Eleanor Williams Classified gene: EP300 as Red List (low evidence)
Structural eye disease v1.137 EP300 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red as 1 case with a structural eye phenotype reported
Structural eye disease v1.137 EP300 Eleanor Williams Gene: ep300 has been classified as Red List (Low Evidence).
Structural eye disease v1.136 EP300 Eleanor Williams Mode of inheritance for gene: EP300 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.135 EP300 Eleanor Williams Phenotypes for gene: EP300 were changed from Rubinstein-Taybi syndrome 2 to Rubinstein-Taybi syndrome 2, OMIM:613684; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, MONDO:0013364
Structural eye disease v1.134 EP300 Eleanor Williams Publications for gene: EP300 were set to PMID: 26279656
Structural eye disease v1.133 EP300 Eleanor Williams Mode of pathogenicity for gene: EP300 was changed from Other to None
Structural eye disease v1.132 EP300 Eleanor Williams commented on gene: EP300
Structural eye disease v1.132 KIAA0556 Samantha Malka gene: KIAA0556 was added
gene: KIAA0556 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to PMID: 32164589
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26
Penetrance for gene: KIAA0556 were set to Complete
Mode of pathogenicity for gene: KIAA0556 was set to Other
Review for gene: KIAA0556 was set to RED
Added comment: Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIAA0556 mutations (patient also had biallelic mutations in KIF7)
Sources: Literature
Structural eye disease v1.132 KIF7 Samantha Malka Deleted their comment
Structural eye disease v1.132 KIF7 Samantha Malka commented on gene: KIF7: Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIF7 mutations (patient also had biallelic mutations in KIAA0556)
Structural eye disease v1.132 KIF7 Samantha Malka reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 32164589; Phenotypes: Joubert syndrome 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.132 EP300 Samantha Malka gene: EP300 was added
gene: EP300 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EP300 were set to PMID: 26279656
Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2
Penetrance for gene: EP300 were set to unknown
Mode of pathogenicity for gene: EP300 was set to Other
Review for gene: EP300 was set to RED
Added comment: One reported case of Rubinstein-Taybi syndrome 2 with an EP300 genetic diagnosis, having a phenotype including coloboma.
Sources: Literature
Structural eye disease v1.132 NR2F1 Samantha Malka gene: NR2F1 was added
gene: NR2F1 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F1 were set to PMID: 34787370
Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome
Penetrance for gene: NR2F1 were set to Complete
Mode of pathogenicity for gene: NR2F1 was set to Other
Review for gene: NR2F1 was set to RED
Added comment: One report in literature of a phenotype including coloboma
Sources: Literature
Structural eye disease v1.132 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.
Structural eye disease v1.132 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Structural eye disease v1.132 KIAA1109 Sarah Leigh commented on gene: KIAA1109
Structural eye disease v1.132 ZNF408 Ivone Leong Tag Q1_22_NHS_review was removed from gene: ZNF408.
Structural eye disease v1.132 WRAP73 Ivone Leong Classified gene: WRAP73 as Red List (low evidence)
Structural eye disease v1.132 WRAP73 Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red based on Expert review by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Structural eye disease v1.132 WRAP73 Ivone Leong Gene: wrap73 has been classified as Red List (Low Evidence).
Structural eye disease v1.131 WRAP73 Ivone Leong Publications for gene: WRAP73 were set to PMID: 33693649
Structural eye disease v1.130 WLS Ivone Leong Classified gene: WLS as Amber List (moderate evidence)
Structural eye disease v1.130 WLS Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Structural eye disease v1.130 WLS Ivone Leong Gene: wls has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.129 WLS Ivone Leong Tag Q2_22_rating tag was added to gene: WLS.
Structural eye disease v1.129 TMEM5 Ivone Leong Classified gene: TMEM5 as Amber List (moderate evidence)
Structural eye disease v1.129 TMEM5 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. 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.
Structural eye disease v1.129 TMEM5 Ivone Leong Gene: tmem5 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.128 TMEM5 Ivone Leong Tag Q2_22_rating tag was added to gene: TMEM5.
Tag Q2_22_NHS_review tag was added to gene: TMEM5.
Structural eye disease v1.128 TMEM5 Ivone Leong Phenotypes for gene: TMEM5 were changed from Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Structural eye disease v1.127 TMEM5 Ivone Leong Publications for gene: TMEM5 were set to
Structural eye disease v1.126 PACS1 Ivone Leong Classified gene: PACS1 as Amber List (moderate evidence)
Structural eye disease v1.126 PACS1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. 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.
Structural eye disease v1.126 PACS1 Ivone Leong Gene: pacs1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.125 PACS1 Ivone Leong Tag Q2_21_rating was removed from gene: PACS1.
Tag Q1_22_NHS_review was removed from gene: PACS1.
Tag Q2_22_rating tag was added to gene: PACS1.
Tag Q2_22_NHS_review tag was added to gene: PACS1.
Structural eye disease v1.125 PACS1 Ivone Leong Tag Q2_21_rating tag was added to gene: PACS1.
Structural eye disease v1.125 HHAT Ivone Leong Classified gene: HHAT as Amber List (moderate evidence)
Structural eye disease v1.125 HHAT Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Structural eye disease v1.125 HHAT Ivone Leong Gene: hhat has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.124 HHAT Ivone Leong Tag Q2_21_rating tag was added to gene: HHAT.
Structural eye disease v1.124 CRIM1 Ivone Leong Tag Q2_21_NHS_review tag was added to gene: CRIM1.
Structural eye disease v1.124 CRIM1 Ivone Leong Deleted their comment
Structural eye disease v1.124 CRIM1 Ivone Leong edited their review of gene: CRIM1: Added comment: This gene is associated with a phenotype in Gene2Phenotype (limited) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: AMBER
Structural eye disease v1.124 CRIM1 Ivone Leong edited their review of gene: CRIM1: Added comment: This gene is associated with a phenotype in Gene2Phenotype (limited) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: GREEN
Structural eye disease v1.124 CRIM1 Ivone Leong Tag Q1_22_rating was removed from gene: CRIM1.
Tag Q2_22_rating tag was added to gene: CRIM1.
Structural eye disease v1.124 CRIM1 Ivone Leong Tag Q1_22_rating tag was added to gene: CRIM1.
Structural eye disease v1.124 CRIM1 Ivone Leong Publications for gene: CRIM1 were set to 25561690; 26681494
Structural eye disease v1.123 FANCL Arina Puzriakova Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.122 C8orf37 Arina Puzriakova commented on gene: C8orf37
Structural eye disease v1.122 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Structural eye disease v1.122 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
Structural eye disease v1.122 FZD5 Arina Puzriakova Tag gene-checked tag was added to gene: FZD5.
Structural eye disease v1.122 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Structural eye disease v1.122 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to} 606657; Behr syndrome to {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Structural eye disease v1.121 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1, 267750 to Knobloch syndrome, type 1, OMIM:267750
Structural eye disease v1.120 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to 17546652; 22399687
Structural eye disease v1.119 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, type 2A2, 609260; Eye Disorders to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
Structural eye disease v1.118 MFN2 Arina Puzriakova Mode of inheritance for gene: MFN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v1.117 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Structural eye disease v1.117 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Structural eye disease v1.116 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Structural eye disease v1.116 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Structural eye disease v1.115 TEK Ivone Leong Tag Q2_21_rating was removed from gene: TEK.
Structural eye disease v1.115 OCRL Ivone Leong Tag Q2_21_rating was removed from gene: OCRL.
Structural eye disease v1.115 LMX1B Ivone Leong Tag Q2_21_rating was removed from gene: LMX1B.
Structural eye disease v1.115 IFIH1 Ivone Leong Tag Q2_21_rating was removed from gene: IFIH1.
Structural eye disease v1.115 CREBBP Ivone Leong Tag Q2_21_rating was removed from gene: CREBBP.
Tag Q1_22_NHS_review was removed from gene: CREBBP.
Structural eye disease v1.115 ASPH Ivone Leong Tag Q3_21_rating was removed from gene: ASPH.
Tag Q3_21_NHS_review was removed from gene: ASPH.
Structural eye disease v1.115 TEK Ivone Leong commented on gene: TEK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 OCRL Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 LMX1B Ivone Leong commented on gene: LMX1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 IFIH1 Ivone Leong commented on gene: IFIH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 CREBBP Ivone Leong commented on gene: CREBBP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 ASPH Ivone Leong commented on gene: ASPH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.114 TEK Ivone Leong Source Expert Review Green was added to TEK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 OCRL Ivone Leong Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 LMX1B Ivone Leong Source Expert Review Green was added to LMX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 CREBBP Ivone Leong Source Expert Review Green was added to CREBBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 ASPH Ivone Leong Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.113 CDH2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 CDH2 Ivone Leong Tag for-review was removed from gene: CDH2.
Structural eye disease v1.113 NF2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 NF2 Ivone Leong Tag for-review was removed from gene: NF2.
Structural eye disease v1.113 DYRK1A Ivone Leong Tag for-review was removed from gene: DYRK1A.
Tag Q1_22_NHS_review was removed from gene: DYRK1A.
Structural eye disease v1.113 WDR37 Ivone Leong Tag for-review was removed from gene: WDR37.
Tag Q1_22_NHS_review was removed from gene: WDR37.
Structural eye disease v1.113 CDON Ivone Leong Tag for-review was removed from gene: CDON.
Tag Q1_22_NHS_review was removed from gene: CDON.
Structural eye disease v1.113 FZD5 Ivone Leong Tag for-review was removed from gene: FZD5.
Tag Q1_22_NHS_review was removed from gene: FZD5.
Structural eye disease v1.113 CAPN15 Ivone Leong Tag for-review was removed from gene: CAPN15.
Tag Q1_22_NHS_review was removed from gene: CAPN15.
Structural eye disease v1.113 CENPF Ivone Leong Tag for-review was removed from gene: CENPF.
Tag Q1_22_NHS_review was removed from gene: CENPF.
Structural eye disease v1.113 CRYBB1 Ivone Leong Tag for-review was removed from gene: CRYBB1.
Tag Q1_22_NHS_review was removed from gene: CRYBB1.
Structural eye disease v1.113 CDH2 Ivone Leong commented on gene: CDH2
Structural eye disease v1.113 NF2 Ivone Leong commented on gene: NF2: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 DYRK1A Ivone Leong commented on gene: DYRK1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 WDR37 Ivone Leong commented on gene: WDR37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CDON Ivone Leong commented on gene: CDON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 FZD5 Ivone Leong commented on gene: FZD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CAPN15 Ivone Leong commented on gene: CAPN15
Structural eye disease v1.113 CENPF Ivone Leong commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CRYBB1 Ivone Leong commented on gene: CRYBB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.112 DYRK1A Ivone Leong Source Expert Review Green was added to DYRK1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 WDR37 Ivone Leong Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CDON Ivone Leong Source Expert Review Green was added to CDON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 FZD5 Ivone Leong Source Expert Review Green was added to FZD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CENPF Ivone Leong Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CRYBB1 Ivone Leong Source Expert Review Green was added to CRYBB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.111 ASPH Ivone Leong Publications for gene: ASPH were set to 31274573; 24768550; 31012784; 34018898
Structural eye disease v1.110 CREBBP Ivone Leong Publications for gene: CREBBP were set to 25599811
Structural eye disease v1.109 CREBBP Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CREBBP.
Structural eye disease v1.109 TSC2 Ivone Leong Classified gene: TSC2 as Amber List (moderate evidence)
Structural eye disease v1.109 TSC2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.109 TSC2 Ivone Leong Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.108 WDR37 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: WDR37.
Structural eye disease v1.108 FZD5 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: FZD5.
Structural eye disease v1.108 EPHA2 Ivone Leong Classified gene: EPHA2 as Amber List (moderate evidence)
Structural eye disease v1.108 EPHA2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.108 EPHA2 Ivone Leong Gene: epha2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.107 DYRK1A Ivone Leong Tag Q1_22_NHS_review tag was added to gene: DYRK1A.
Structural eye disease v1.107 CRYBB3 Ivone Leong Classified gene: CRYBB3 as Amber List (moderate evidence)
Structural eye disease v1.107 CRYBB3 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.107 CRYBB3 Ivone Leong Gene: crybb3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.106 CRYBB1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CRYBB1.
Structural eye disease v1.106 CENPF Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CENPF.
Structural eye disease v1.106 CDON Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CDON.
Structural eye disease v1.106 CAPN15 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CAPN15.
Structural eye disease v1.106 BRPF1 Ivone Leong Classified gene: BRPF1 as Amber List (moderate evidence)
Structural eye disease v1.106 BRPF1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been rated Amber.
Structural eye disease v1.106 BRPF1 Ivone Leong Gene: brpf1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.105 BRPF1 Ivone Leong Tag Q1_22_rating was removed from gene: BRPF1.
Structural eye disease v1.105 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from Cataract 5, multiple types, 116800 to Cataract 5, multiple types, OMIM:116800
Structural eye disease v1.104 HARS Arina Puzriakova Mode of inheritance for gene: HARS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.103 POLR1D Arina Puzriakova Phenotypes for gene: POLR1D were changed from Treacher-Collins Syndrome 2, 613717 to Treacher Collins syndrome 2, OMIM:613717
Structural eye disease v1.102 POLR1D Arina Puzriakova Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v1.101 ZNF408 Nicola Ragge reviewed gene: ZNF408: Rating: RED; Mode of pathogenicity: ; Publications: 30998249; Phenotypes: ; Mode of inheritance:
Structural eye disease v1.101 WRAP73 Nicola Ragge reviewed gene: WRAP73: Rating: RED; Mode of pathogenicity: ; Publications: 33693649; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 TSC2 Nicola Ragge reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33110010, 11264130; Phenotypes: Tuberous Sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 TBC1D23 Nicola Ragge reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: 28823707, 28823706; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 EPHA2 Nicola Ragge edited their review of gene: EPHA2: Added comment: Harding et al. 2021 report two unrelated multi-generation families with microphthalmia and cataract with a missense or splice site variant segregating in affected members. No inheritance for second variant and no data supporting splicing effect. Variants have previously been found in families with cataracts. They also demonstrate that morpholino knockdown of EPHA2b in zebrafish caused microphthalmia. Varsome: missense = VUS; splice variant=pathogenic; Changed rating: AMBER; Changed publications to: 33671840; Changed phenotypes to: Cataract 6, multiple types, Cataract 6, multiple types 116600, 116600
Structural eye disease v1.101 CRYBB3 Nicola Ragge edited their review of gene: CRYBB3: Added comment: congenital/early onset cataract gene, no evidence for involvement in AMC - Zin et al. 2021 report a family with three members affected with paediatric cataract and microphthalmia with a missense variant in CRYBB3. They also refer to Sekeroglu et al. 2020 who described a variant affecting same residue in indiviidual affected by cataract and microphthalmia and his affected mother (cataracts).; Changed rating: AMBER; Changed publications to: 34356085, 33510601; Changed phenotypes to: Cataract 22, autosomal recessive, 609741, Cataract 22, autosomal recessive 609741
Structural eye disease v1.101 BRPF1 Nicola Ragge reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33418956, 31176769; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 WLS Nicola Ragge reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587386, 25715397; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 TMEM5 Nicola Ragge edited their review of gene: TMEM5: Added comment: Alharbi et al. 2021, 3 families with Walker-Warburg syndrome and homozygous pathogenic TMEM5 variants, with affected individuals in all three families presenting with microphthalmia. No mention of structural eye anomalies in original paper (Vuillaumier-Barrot et al. 2012). Jae et al. 2013 describe 3 families with biallelic pathogenic TMEM5 variants (all parents heterozygous), affected individuals in 2/3 families have microphthalmia.; Changed rating: GREEN; Changed publications to: 33199158, 23217329, 23519211; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 PACS1 Nicola Ragge reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34468556, 34068396, 34631081, 29550517, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 HHAT Nicola Ragge reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome 600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 CRIM1 Nicola Ragge edited their review of gene: CRIM1: Added comment: Zhang: mouse model with homozygous hypomorphic allele has cataracts and microphthalmia. Beleggia: one family with Colobomatous macrophthalmia with microcornea syndrome with a het ex15-17 deletion segregating in a large Turkish family. Haug et al. 2021 reported a het partial gene deletion affecting exon 15-17 segregating in three generations of a Portuguese/polish family with coloboma and/or microcornea. The CNVs described in these publications take out the final three exons of CRIM1 but do not involve the coding regions of any other genes. They do not appear to have the same breakpoints, and neither of them is present on DGV or decipher; Changed rating: GREEN; Changed publications to: 26681494, 25561690, 33418956, 26681494, 25561690; Changed phenotypes to: 602499, Macrophthalmia, Colobomatous, with microcornea, Macrophthalmia, Colobomatous, with microcornea 602499
Structural eye disease v1.101 CENPF Nicola Ragge edited their review of gene: CENPF: Added comment: Stromme: two girls with Stromme syndrome and unilateral microcornea, later demonstrated to have compound het truncating variants by Filges, who also described another family with ocular anomalies. Ozkinay: family with two siblings with microphthalmia and Stromme syndrome with homozygous frameshift variant parents het, Alghamdi: family with two siblings with stromme syndrome: one with unilateral microphthalmia and one with corneal opacities with homozygous missense parents het;Syndrome seems mainly cataract - but sometimes with microcornea plus optic nerve coloboma and macular coloboma. Ho et al. 2022 have pubblished a further case with microphthalmia and compound het truncating variants, one inherited from mother; father n/a; Changed publications to: 31953238, 28407396, 26820108, 35001526, 8261651
Structural eye disease v1.101 WDR37 Nicola Ragge edited their review of gene: WDR37: Added comment: Reis et al. 2019 de novo missense variants in four unrelated families with Peter's anomaly, coloboma or microcornea. Hay et al. 2020 de novo missense variants in three unrelated families with syndromic coloboma.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 FZD5 Nicola Ragge edited their review of gene: FZD5: Added comment: Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.; Changed publications to: 32737437, 26908622; Changed phenotypes to: None, Coloboma
Structural eye disease v1.101 DYRK1A Nicola Ragge edited their review of gene: DYRK1A: Added comment: Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 CRYBB1 Nicola Ragge edited their review of gene: CRYBB1: Added comment: Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating.Willougby et al. reported a novel stoploss variant segregating in a family with cataract and microcornea.; Changed publications to: 29386872, 31566446, 16110300; Changed phenotypes to: Cataract 17, multiple types, Cataract 17, multiple types 611544, 611544
Structural eye disease v1.101 CDON Nicola Ragge edited their review of gene: CDON: Added comment: Reis et al. 2020: one family with compound het splice variants; Islam et al. 2020 one family with homozygous stopgain variant segregating in parents; Berkun et al. 2019 one family with homozygous stopgain. ; Zhang et al. 2009 demonstrated that Cdo -/- mice have coloboma; Changed publications to: 32729136, 31502381, 19754878
Structural eye disease v1.101 CAPN15 Nicola Ragge edited their review of gene: CAPN15: Added comment: Zha et al. 2020 described 4 families with structural eye anomalies with biallelic variants segregating + animal model. Mor-Shaked et al. 2021 add two siblings with biallelic variant affecting splice donor site and eye abnormalities; Changed publications to: 32885237, 33410501; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 ASPH Nicola Ragge reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194805, 31274573, 31012784, 34018898, 33251883, 24768550; Phenotypes: Traboulsi syndrome 601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.101 TEK Nicola Ragge reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33027505, 27270174, 34956319, 35011756; Phenotypes: Glaucoma 3, primary congenital, E, OMIM:617272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 OCRL Nicola Ragge edited their review of gene: OCRL: Added comment: Yuksel et al 2009. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1, inheritance not reported. Ma et al. 2020 137 individuals with Lowe syndrome, 79 had molecular confirmation of OCRL1 variant (variants not listed), 41% had developmental glaucoma. Song et al. 2017 2 individuals with Lowe Syndrome and glaucoma with truncating variants inherited from carrier mother (X-linked). Many further reports; Changed rating: GREEN; Changed publications to: 19168822, 32340490, 28473699; Changed phenotypes to: Lowe syndrome 309000, 309000, Lowe syndrome
Structural eye disease v1.101 LMX1B Nicola Ragge edited their review of gene: LMX1B: Added comment: Ghoumid et al. 2016: 9/51 families with LMX1B variants and NPS have glaucoma. There are many other reports.; Changed rating: GREEN; Changed publications to: 25898926; Changed phenotypes to: Nail-patella syndrome, Nail-patella syndrome 161200, 161200
Structural eye disease v1.101 IFIH1 Nicola Ragge reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29703882, 31898846; Phenotypes: Aicardi-Goutieres syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.101 CREBBP Nicola Ragge reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25599811, 11004107, 33629314, 19938080, 21480480; Phenotypes: Rubinstein-Taybi syndrome 1 MIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.100 ZNF408 Ivone Leong gene: ZNF408 was added
gene: ZNF408 was added to Structural eye disease. Sources: Expert list
Q1_22_NHS_review tags were added to gene: ZNF408.
Mode of inheritance for gene: ZNF408 was set to Unknown
Publications for gene: ZNF408 were set to 30998249
Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72, OMIM:616469
Review for gene: ZNF408 was set to RED
Added comment: Sources: Expert list
Structural eye disease v1.99 TSC2 Ivone Leong gene: TSC2 was added
gene: TSC2 was added to Structural eye disease. Sources: Expert list
Q1_22_NHS_review tags were added to gene: TSC2.
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC2 were set to 33110010; 11264130
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, OMIM:613254
Review for gene: TSC2 was set to AMBER
Added comment: Sources: Expert list
Structural eye disease v1.98 BRPF1 Ivone Leong gene: BRPF1 was added
gene: BRPF1 was added to Structural eye disease. Sources: Expert list
Q1_22_rating tags were added to gene: BRPF1.
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRPF1 were set to 33418956; 31176769
Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333
Review for gene: BRPF1 was set to AMBER
Added comment: Sources: Expert list
Structural eye disease v1.97 WLS Ivone Leong gene: WLS was added
gene: WLS was added to Structural eye disease. Sources: Expert list
Q1_22_NHS_review tags were added to gene: WLS.
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386; 25715397
Phenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648
Review for gene: WLS was set to AMBER
Added comment: Sources: Expert list
Structural eye disease v1.96 PACS1 Ivone Leong gene: PACS1 was added
gene: PACS1 was added to Structural eye disease. Sources: Expert list
Q1_22_NHS_review tags were added to gene: PACS1.
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PACS1 were set to 29550517; 26842493; 34631081; 34468556; 34068396
Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, OMIM:615009
Review for gene: PACS1 was set to AMBER
Added comment: Sources: Expert list
Structural eye disease v1.95 HHAT Ivone Leong gene: HHAT was added
gene: HHAT was added to Structural eye disease. Sources: Expert list
Q1_22_NHS_review tags were added to gene: HHAT.
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989; 24784881
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Review for gene: HHAT was set to AMBER
Added comment: Sources: Expert list
Structural eye disease v1.94 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Structural eye disease v1.93 NDUFB11 Ivone Leong Mode of inheritance for gene: NDUFB11 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v1.92 COX7B Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" as the latter is the correct MOI.
Structural eye disease v1.92 COX7B Ivone Leong Mode of inheritance for gene: COX7B was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v1.91 FOXE3 Eleanor Williams Tag watchlist_moi tag was added to gene: FOXE3.
Structural eye disease v1.91 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving mode of inheritance as biallelic for now. 2 monoallelic cases with coloboma, or both coloboma and microphthalmia so flagged with MOI_watchlist tag.
Structural eye disease v1.91 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.90 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment mesenchymal dysgenesis 107250; Anterior segment dysgenesis 2, multiple subtypes 610256 to Anterior segment mesenchymal dysgenesis, OMIM:107250; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256
Structural eye disease v1.89 FOXE3 Eleanor Williams Publications for gene: FOXE3 were set to 16826526; 24859618, 19708017; 20361012; 11159941; 27218149; 21150893
Structural eye disease v1.88 FOXE3 Eleanor Williams changed review comment from: Review of mode of inheritance:

There are many reported cases of biallelic variants in FOXE3 associated with an eye phenotype, particularly cataracts, aphakia, microphthalmia and sclerocornea (PMID: 27218149 Khan et al 2016, PMID: 16826526 Valleix et al 2006, PMID: 19708017 Iseri et al 2009, PMID: 20140963 Reis et al 2010, PMID: 20664696 Ali et al 2010, PMID: 20361012 Anjum et al 2010, PMID: 24019743 Pantoja-Melendez et al 2013, PMID: 27669367 Saboo et al 2017, PMID: 29878917 Quiroz-Casian et al 2018, PMID: 32436650 Taha Najim et al 2020, PMID: 34046667 Reis et al 2021). Glaucoma is also noted in some individuals. Heterozygous carriers are largely unaffected in these cases.

Patients with monoallelic variants in FOXE3 and an eye phenotype are also reported:

PMID: 11159941 - Semina et al 2001 - screened FOXE3 in a cohort of 161 unrelated individuals affected with anterior segment ocular disorders and identified a 1 bp insertion in FOXE3 in a proband and affected mother that was not found in controls. Both affected individuals had prominent anterior Schwalbe’s line (posterior embryotoxon) and cataracts.

PMID: 19708017 - Iseri et al 2009 - identified 2 pedigrees with dominant mutations in the FOXE3 gene by screening a large cohort of 236 anophthalmia-microphthalmia subjects; one with anterior segment anomalies, including Peters’ anomaly, early onset cataract, and coloboma, and another with microphthalmia,coloboma, and cerulean type (blue dot) cataracts.

PMID: 20806047 - Bremond-Ginac et al 2010 - a dominant mutation at the stop codon of FOXE3, c.959G>C (p.X320SerextX72), was identified in a patient with congenital cataract.

PMID: 21150893 - Doucette et al 2011 - sequenced 9 candidate genes in a large Newfoundland family with 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly and found a c.959G>T) substitution that replaces the stop codon for a leucine residue, predicting the addition of 72 amino acids to the C-terminus of FOXE3. Analysis of lympohocytes suggests the c.959T allele is absent rather than an extended protein being expressed.

PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3. 40% of mice heterozygous for Foxe3(dyl) have corneal and lenticular defects.

PMID: 34046667 - Reis et al 2021 - 2 families reported with dominant pathogenic extension alleles which modify the stop codon but keep the amino acids in frame, adding a 72–amino acid nonsense peptide. Cataracts were found in all cases where the lens could be evaluated. Eye size was normal in all individuals, but mild anterior segment anomalies affecting the cornea and/or iris were noted in some individuals. Sclerocornea was observed in two family members (15C and 16B).; to: Review of mode of inheritance:

There are many reported cases of biallelic variants in FOXE3 associated with an eye phenotype, particularly cataracts, aphakia, microphthalmia and sclerocornea (PMID: 27218149 Khan et al 2016, PMID: 16826526 Valleix et al 2006, PMID: 19708017 Iseri et al 2009, PMID: 20140963 Reis et al 2010, PMID: 20664696 Ali et al 2010, PMID: 20361012 Anjum et al 2010, PMID: 24019743 Pantoja-Melendez et al 2013, PMID: 27669367 Saboo et al 2017, PMID: 29878917 Quiroz-Casian et al 2018, PMID: 32436650 Taha Najim et al 2020, PMID: 34046667 Reis et al 2021). Glaucoma is also noted in some individuals. Heterozygous carriers are largely unaffected in these cases.

Patients with monoallelic variants in FOXE3 and an eye phenotype are also reported, but only 2 patients show coloboma, or both coloboma and microphthalmia (both reported in Iseri et al 2009).

PMID: 11159941 - Semina et al 2001 - screened FOXE3 in a cohort of 161 unrelated individuals affected with anterior segment ocular disorders and identified a 1 bp insertion in FOXE3 in a proband and affected mother that was not found in controls. Both affected individuals had prominent anterior Schwalbe’s line (posterior embryotoxon) and cataracts.

PMID: 19708017 - Iseri et al 2009 - identified 2 pedigrees with dominant mutations in the FOXE3 gene by screening a large cohort of 236 anophthalmia-microphthalmia subjects; one with anterior segment anomalies, including Peters’ anomaly, early onset cataract, and coloboma, and another with microphthalmia, coloboma, and cerulean type (blue dot) cataracts.

PMID: 20806047 - Bremond-Ginac et al 2010 - a dominant mutation at the stop codon of FOXE3, c.959G>C (p.X320SerextX72), was identified in a patient with congenital cataract.

PMID: 21150893 - Doucette et al 2011 - sequenced 9 candidate genes in a large Newfoundland family with 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly and found a c.959G>T) substitution that replaces the stop codon for a leucine residue, predicting the addition of 72 amino acids to the C-terminus of FOXE3. Analysis of lympohocytes suggests the c.959T allele is absent rather than an extended protein being expressed.

PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3. 40% of mice heterozygous for Foxe3(dyl) have corneal and lenticular defects.

PMID: 34046667 - Reis et al 2021 - 2 families reported with dominant pathogenic extension alleles which modify the stop codon but keep the amino acids in frame, adding a 72–amino acid nonsense peptide. Cataracts were found in all cases where the lens could be evaluated. Eye size was normal in all individuals, but mild anterior segment anomalies affecting the cornea and/or iris were noted in some individuals. Sclerocornea was observed in two family members (15C and 16B).
Structural eye disease v1.88 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861; Eye Disorders to Retinitis pigmentosa 59, OMIM:613861
Structural eye disease v1.87 CRYBB3 Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741
Structural eye disease v1.86 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from CATARACT 16, MULTIPLE TYPES, 613763 to Cataract 16, multiple types, OMIM:613763
Structural eye disease v1.85 COL9A2 Arina Puzriakova Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V, 614284; Eye Disorders to Stickler syndrome, type V, OMIM:614284
Structural eye disease v1.84 COL9A1 Arina Puzriakova Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; Eye Disorders to Stickler syndrome, type IV, OMIM:614134
Structural eye disease v1.83 ASPH Tom Cullup reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550; Phenotypes: Traboulsi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.83 BEST1 Eleanor Williams Phenotypes for gene: BEST1 were changed from Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Eye Disorders; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 to ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220; Bestrophinopathy, autosomal recessive , OMIM:611809; Macular dystrophy, vitelliform, 2, OMIM:153700; Retinitis pigmentosa, concentric, OMIM:613194; Retinitis pigmentosa-50, OMIM:613194; Vitreoretinochoroidopathy, OMIM:193220
Structural eye disease v1.82 BEST1 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic for now. However two cases with angle closure glaucoma as part of the phenotype have been reported, so adding the watch list tag.
Structural eye disease v1.82 BEST1 Eleanor Williams Mode of inheritance for gene: BEST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.81 BEST1 Eleanor Williams Tag watchlist_moi tag was added to gene: BEST1.
Structural eye disease v1.81 BEST1 Eleanor Williams commented on gene: BEST1
Structural eye disease v1.81 KMT2D Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 (can include coloboma), 147920 to Kabuki syndrome 1, OMIM:147920; Coloboma; Microphthalmia
Structural eye disease v1.80 FOXE3 Eleanor Williams changed review comment from: Review of mode of inheritance:
There are many reported cases of biallelic variants in FOXE3 associated with an eye phenotype, particularly cataracts, aphakia, microphthalmia and sclerocornea (PMID: 27218149 Khan et al 2016, PMID: 16826526 Valleix et al 2006, PMID: 19708017 Iseri et al 2009, PMID: 20140963 Reis et al 2010, PMID: 20664696 Ali et al 2010, PMID: 20361012 Anjum et al 2010, PMID: 24019743 Pantoja-Melendez et al 2013, PMID: 27669367 Saboo et al 2017, PMID: 29878917 Quiroz-Casian et al 2018, PMID: 32436650 Taha Najim et al 2020, PMID: 34046667 Reis et al 2021). Glaucoma is also noted in some individuals. Heterozygous carriers are largely unaffected in these cases.

Patients with monoallelic variants in FOXE3 and an eye phenotype are also reported:

PMID: 11159941 - Semina et al 2001 - screened FOXE3 in a cohort of 161 unrelated individuals affected with anterior segment ocular disorders and identified a 1 bp insertion in FOXE3 in a proband and affected mother that was not found in controls. Both affected individuals had prominent anterior Schwalbe’s line (posterior embryotoxon) and cataracts.

PMID: 19708017 - Iseri et al 2009 - identified 2 pedigrees with dominant mutations in the FOXE3 gene by screening a large cohort of 236 anophthalmia-microphthalmia subjects; one with anterior segment anomalies, including Peters’ anomaly, early onset cataract, and coloboma, and another with microphthalmia,coloboma, and cerulean type (blue dot) cataracts.

PMID: 20806047 - Bremond-Ginac et al 2010 - a dominant mutation at the stop codon of FOXE3, c.959G>C (p.X320SerextX72), was identified in a patient with congenital cataract.

PMID: 21150893 - Doucette et al 2011 - sequenced 9 candidate genes in a large Newfoundland family with 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly and found a c.959G>T) substitution that replaces the stop codon for a leucine residue, predicting the addition of 72 amino acids to the C-terminus of FOXE3. Analysis of lympohocytes suggests the c.959T allele is absent rather than an extended protein being expressed.

PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3. 40% of mice heterozygous for Foxe3(dyl) have corneal and lenticular defects.

PMID: 34046667 - Reis et al 2021 - 2 families reported with dominant pathogenic extension alleles which modify the stop codon but keep the amino acids in frame, adding a 72–amino acid nonsense peptide. Cataracts were found in all cases where the lens could be evaluated. Eye size was normal in all individuals, but mild anterior segment anomalies affecting the cornea and/or iris were noted in some individuals. Sclerocornea was observed in two family members (15C and 16B).; to: Review of mode of inheritance:

There are many reported cases of biallelic variants in FOXE3 associated with an eye phenotype, particularly cataracts, aphakia, microphthalmia and sclerocornea (PMID: 27218149 Khan et al 2016, PMID: 16826526 Valleix et al 2006, PMID: 19708017 Iseri et al 2009, PMID: 20140963 Reis et al 2010, PMID: 20664696 Ali et al 2010, PMID: 20361012 Anjum et al 2010, PMID: 24019743 Pantoja-Melendez et al 2013, PMID: 27669367 Saboo et al 2017, PMID: 29878917 Quiroz-Casian et al 2018, PMID: 32436650 Taha Najim et al 2020, PMID: 34046667 Reis et al 2021). Glaucoma is also noted in some individuals. Heterozygous carriers are largely unaffected in these cases.

Patients with monoallelic variants in FOXE3 and an eye phenotype are also reported:

PMID: 11159941 - Semina et al 2001 - screened FOXE3 in a cohort of 161 unrelated individuals affected with anterior segment ocular disorders and identified a 1 bp insertion in FOXE3 in a proband and affected mother that was not found in controls. Both affected individuals had prominent anterior Schwalbe’s line (posterior embryotoxon) and cataracts.

PMID: 19708017 - Iseri et al 2009 - identified 2 pedigrees with dominant mutations in the FOXE3 gene by screening a large cohort of 236 anophthalmia-microphthalmia subjects; one with anterior segment anomalies, including Peters’ anomaly, early onset cataract, and coloboma, and another with microphthalmia,coloboma, and cerulean type (blue dot) cataracts.

PMID: 20806047 - Bremond-Ginac et al 2010 - a dominant mutation at the stop codon of FOXE3, c.959G>C (p.X320SerextX72), was identified in a patient with congenital cataract.

PMID: 21150893 - Doucette et al 2011 - sequenced 9 candidate genes in a large Newfoundland family with 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly and found a c.959G>T) substitution that replaces the stop codon for a leucine residue, predicting the addition of 72 amino acids to the C-terminus of FOXE3. Analysis of lympohocytes suggests the c.959T allele is absent rather than an extended protein being expressed.

PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3. 40% of mice heterozygous for Foxe3(dyl) have corneal and lenticular defects.

PMID: 34046667 - Reis et al 2021 - 2 families reported with dominant pathogenic extension alleles which modify the stop codon but keep the amino acids in frame, adding a 72–amino acid nonsense peptide. Cataracts were found in all cases where the lens could be evaluated. Eye size was normal in all individuals, but mild anterior segment anomalies affecting the cornea and/or iris were noted in some individuals. Sclerocornea was observed in two family members (15C and 16B).
Structural eye disease v1.80 FOXE3 Eleanor Williams reviewed gene: FOXE3: Rating: ; Mode of pathogenicity: None; Publications: 27218149, 16826526, 19708017, 20140963, 20664696, 20361012, 24019743, 27669367, 29878917, 32436650, 34046667, 11159941, 19708017, 20806047, 21150893, 11980846, 34046667; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256, Cataract 34, multiple types, OMIM:612968; Mode of inheritance: None
Structural eye disease v1.80 GJA1 Arina Puzriakova Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941; 16816024; 29902798
Structural eye disease v1.79 GJA1 Arina Puzriakova Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941
Structural eye disease v1.78 GJA1 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1.
Structural eye disease v1.78 GJA1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.

Ocular abnormalities including microphthalmia and microcornea are reported in GJA1-related oculodentodigital dysplasia, which can be dominantly (MIM:164200) or recessively (MIM:257850) inherited.
Structural eye disease v1.78 GJA1 Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.77 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Structural eye disease v1.76 SMO Ivone Leong Tag mosaicism tag was added to gene: SMO.
Tag somatic tag was added to gene: SMO.
Structural eye disease v1.76 ASPH Ivone Leong Tag Q3_21_rating tag was added to gene: ASPH.
Tag Q3_21_NHS_review tag was added to gene: ASPH.
Structural eye disease v1.76 ASPH Ivone Leong Added comment: Comment on publications: Additional case; however, I could not access the article.
Structural eye disease v1.76 ASPH Ivone Leong Publications for gene: ASPH were set to 31274573; 24768550; 31012784
Structural eye disease v1.75 ASPH Ivone Leong Classified gene: ASPH as Amber List (moderate evidence)
Structural eye disease v1.75 ASPH Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Structural eye disease v1.75 ASPH Ivone Leong Gene: asph has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.74 ASPH Ivone Leong Phenotypes for gene: ASPH were changed from ectopia lentis; facial dysmorphism; Traboulsi syndrome to Traboulsi syndrome, OMIM:601552
Structural eye disease v1.73 ASPH Julia Baptista gene: ASPH was added
gene: ASPH was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPH were set to 31274573; 24768550; 31012784
Phenotypes for gene: ASPH were set to ectopia lentis; facial dysmorphism; Traboulsi syndrome
Review for gene: ASPH was set to GREEN
gene: ASPH was marked as current diagnostic
Added comment: Sources: Literature
Structural eye disease v1.73 KIF17 Ivone Leong Classified gene: KIF17 as Red List (low evidence)
Structural eye disease v1.73 KIF17 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 currently not enough evidence to support gene-disease association. This gene has been given a Red rating.
Structural eye disease v1.73 KIF17 Ivone Leong Gene: kif17 has been classified as Red List (Low Evidence).
Structural eye disease v1.72 KIF17 Ivone Leong Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, MONDO:0021129; Coloboma, MONDO:0001476
Structural eye disease v1.71 KIF17 Zornitza Stark gene: KIF17 was added
gene: KIF17 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF17 were set to 33922911; 30458707; 28341548
Phenotypes for gene: KIF17 were set to Microphthalmia; Coloboma
Review for gene: KIF17 was set to RED
Added comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: Literature
Structural eye disease v1.71 CAPN15 Arina Puzriakova Added comment: Comment on publications: Mor-Shaked et al. 2021 (PMID:33410501) report a fifth family with 2 sibs who harboured a homozygous 47 base-pair deletion in a minimal intron of CAPN15. Both patients presented with microphthalmia, and one individual also had a right iris coloboma and bilateral optic gliosis
Structural eye disease v1.71 CAPN15 Arina Puzriakova Publications for gene: CAPN15 were set to 32885237
Structural eye disease v1.70 CAPN15 Arina Puzriakova Added comment: Comment on phenotypes: CAPN15 is now associated with a relevant phenotype in OMIM - 'Oculogastrointestinal neurodevelopmental syndrome', MIM# 619318
Structural eye disease v1.70 CAPN15 Arina Puzriakova Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Microphthalmia, HP:0000568; Coloboma, HP:0000589
Structural eye disease v1.69 WRAP73 Catherine Snow changed review comment from: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence as new gene disease association with one missense.
Sources: Literature; to: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence this is a new gene disease association with just one missense variant.
Sources: Literature
Structural eye disease v1.69 WRAP73 Catherine Snow Classified gene: WRAP73 as Amber List (moderate evidence)
Structural eye disease v1.69 WRAP73 Catherine Snow Gene: wrap73 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.68 WRAP73 Catherine Snow gene: WRAP73 was added
gene: WRAP73 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: WRAP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP73 were set to PMID: 33693649
Phenotypes for gene: WRAP73 were set to Microspherophakia
Review for gene: WRAP73 was set to AMBER
Added comment: Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence as new gene disease association with one missense.
Sources: Literature
Structural eye disease v1.67 POLH Arina Puzriakova Phenotypes for gene: POLH were changed from XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750
Structural eye disease v1.66 TBC1D23 Ivone Leong gene: TBC1D23 was added
gene: TBC1D23 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D23 were set to 28823707; 28823706; 32360255
Phenotypes for gene: TBC1D23 were set to coloboma, MONDO:0001476; strabismus, MONDO:0003432
Review for gene: TBC1D23 was set to RED
Added comment: PMID:28823707. 2 of 3 unrelated families (4 of 7 affected individuals) had ataxia. 1 family (3 affected individuals) had coloboma and strabismus. 1 family (1 individual) had hyperopia and strabismus.

PMID:28823706. 2 of 4 unrelated families (4 of 6 affected individuals) had ataxia. 2 of 6 individuals with eye phenotype (strabismus or esotropia of the left eye). Zebrafish morpholino knockout model showed reduced eye size.

PMID: 32360255. 1 case with ataxia. No eye phenotype reported.

Despite there being a zebrafish model with an eye phenotype, there is only 1 family out of 8 who had coloboma, therefore this gene is given a Red rating until more evidence is available.
Sources: Literature
Structural eye disease v1.65 LMX1B Ivone Leong Classified gene: LMX1B as Amber List (moderate evidence)
Structural eye disease v1.65 LMX1B Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is Green on Glaucoma (developmental) (Version 1.33).

"Glaucoma is a key feature of this condition. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

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 the next review.
Structural eye disease v1.65 LMX1B Ivone Leong Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.64 LMX1B Ivone Leong Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, OMIM:161200
Structural eye disease v1.63 LMX1B Ivone Leong Tag Q2_21_rating tag was added to gene: LMX1B.
Structural eye disease v1.63 CREBBP Ivone Leong Classified gene: CREBBP as Amber List (moderate evidence)
Structural eye disease v1.63 CREBBP Ivone Leong Gene: crebbp has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.62 CREBBP Ivone Leong gene: CREBBP was added
gene: CREBBP was added to Structural eye disease. Sources: Literature
Q2_21_rating tags were added to gene: CREBBP.
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 25599811
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM:180849
Review for gene: CREBBP was set to GREEN
Added comment: This gene is Green on Glaucoma (developmental) (Version 1.27).

"Glaucoma is a feature of this syndrome. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

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 given a Green rating at the next review.
Sources: Literature
Structural eye disease v1.61 TEK Ivone Leong Classified gene: TEK as Amber List (moderate evidence)
Structural eye disease v1.61 TEK Ivone Leong Gene: tek has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.60 TEK Ivone Leong gene: TEK was added
gene: TEK was added to Structural eye disease. Sources: Literature
Q2_21_rating tags were added to gene: TEK.
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 27270174
Phenotypes for gene: TEK were set to Glaucoma 3, primary congenital, E, OMIM:617272
Review for gene: TEK was set to GREEN
Added comment: This gene is also Green on the Glaucoma (developmental) (Version 1.24).

"Ten families and a supportive mouse model. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Sources: Literature
Structural eye disease v1.59 IFIH1 Ivone Leong Classified gene: IFIH1 as Amber List (moderate evidence)
Structural eye disease v1.59 IFIH1 Ivone Leong Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.58 IFIH1 Ivone Leong gene: IFIH1 was added
gene: IFIH1 was added to Structural eye disease. Sources: Literature
Q2_21_rating tags were added to gene: IFIH1.
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 29703882; 31898846
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, OMIM:182250
Review for gene: IFIH1 was set to GREEN
Added comment: This gene is also Green on the Glaucoma (developmental) (Version 1.22) panel.

"Glaucoma is a feature of this condition. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

PMID: 29703882. "4-year-old boy with a diagnosis of AGS, global developmental delay, glucose-6-phosphate dehydrogenase (G6PD) deficiency, patent ductus arteriosus (PDA), congenital glaucoma, and aniridia. Family history was positive for glaucoma, with consanguineously married parents. According to the genetics report, both parents were carriers of congenital glaucoma genes." PMID: 31898846. Glaucoma found as part of the phenotype.

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 given a Green rating at the next review.
Sources: Literature
Structural eye disease v1.57 OCRL Ivone Leong commented on gene: OCRL: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Glaucoma is present in ~50% of cases, GeneReviews. Therefore this gene should be promoted to Green status at the next review.
Structural eye disease v1.57 OCRL Ivone Leong Tag Q2_21_rating tag was added to gene: OCRL.
Structural eye disease v1.57 OCRL Ivone Leong Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 to Lowe syndrome, OMIM:309000
Structural eye disease v1.56 WNT2B Ivone Leong Classified gene: WNT2B as Amber List (moderate evidence)
Structural eye disease v1.56 WNT2B Ivone Leong Gene: wnt2b has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.55 WNT2B Ivone Leong Publications for gene: WNT2B were set to
Structural eye disease v1.54 WNT2B Ivone Leong Phenotypes for gene: WNT2B were changed from 29909964; 33526876 to Diarrhoea 9, OMIM:618168; microcornea; coloboma, MONDO:0001476
Structural eye disease v1.53 WNT2B Ivone Leong edited their review of gene: WNT2B: Changed publications: 29909964, 33526876; Changed phenotypes: Diarrhoea 9, OMIM:618168, microcornea, coloboma, MONDO:0001476
Structural eye disease v1.53 WNT2B Ivone Leong gene: WNT2B was added
gene: WNT2B was added to Structural eye disease. Sources: Literature
watchlist tags were added to gene: WNT2B.
Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT2B were set to 29909964; 33526876
Review for gene: WNT2B was set to AMBER
Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is also present on the Intestinal failure panel (Version 1.28).

Review submitted by Zornitza Stark on the Intestinal failure panel:
"Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function. Borderline Green/Amber. Sources: Expert Review
Zornitza Stark (Australian Genomics), 4 Jan 2021"

PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD. The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.

As there are only 2 cases of patients with microcornea and coloboma this gene has been given an Amber rating.
Sources: Literature
Structural eye disease v1.52 COL6A3 Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence)
Structural eye disease v1.52 COL6A3 Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.51 COL6A3 Ivone Leong gene: COL6A3 was added
gene: COL6A3 was added to Structural eye disease. 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: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

Zornitza's review on the Cataracts panel (Version 2.66)
"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
Zornitza Stark (Australian Genomics), 7 Jan 2021"

There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating.
Sources: Literature
Structural eye disease v1.50 CRYAA Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
Structural eye disease v1.49 CRYAA Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics)
Structural eye disease v1.49 CRYAA Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Structural eye disease v1.48 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 19081073; 28135719
Structural eye disease v1.47 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Structural eye disease v1.47 DDX58 Arina Puzriakova Publications for gene: DDX58 were set to 25620203; 30574673
Structural eye disease v1.46 DDX58 Arina Puzriakova Phenotypes for gene: DDX58 were changed from Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. to Singleton-Merten syndrome 2, OMIM:616298; Singleton-Merten syndrome 2, MONDO:0014575
Structural eye disease v1.45 DDX58 Arina Puzriakova Mode of pathogenicity for gene: DDX58 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v1.44 DDX58 Arina Puzriakova edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v1.44 DDX58 Arina Puzriakova reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.44 TMEM98 Arina Puzriakova Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426
Structural eye disease v1.43 TENM3 Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, 615145 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Structural eye disease v1.42 DYRK1A Ivone Leong Classified gene: DYRK1A as Amber List (moderate evidence)
Structural eye disease v1.42 DYRK1A Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.
Structural eye disease v1.42 DYRK1A Ivone Leong Gene: dyrk1a has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.41 DYRK1A Ivone Leong Tag for-review tag was added to gene: DYRK1A.
Structural eye disease v1.41 CDK5RAP2 Ivone Leong Classified gene: CDK5RAP2 as Amber List (moderate evidence)
Structural eye disease v1.41 CDK5RAP2 Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Structural eye disease v1.41 CDK5RAP2 Ivone Leong Gene: cdk5rap2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.40 CDK5RAP2 Ivone Leong Tag watchlist tag was added to gene: CDK5RAP2.
Structural eye disease v1.40 WDR37 Ivone Leong Classified gene: WDR37 as Amber List (moderate evidence)
Structural eye disease v1.40 WDR37 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Structural eye disease v1.40 WDR37 Ivone Leong Gene: wdr37 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.39 WDR37 Ivone Leong Tag for-review tag was added to gene: WDR37.
Structural eye disease v1.39 WDR37 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BIALLELIC, autosomal or pseudoautosomal" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown".
Structural eye disease v1.39 WDR37 Ivone Leong Mode of inheritance for gene: WDR37 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.38 WDR37 Ivone Leong Phenotypes for gene: WDR37 were changed from corneal opacity; Peters anomaly; coloboma; microcornea to corneal opacity; Peters anomaly; coloboma; microcornea; Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850
Structural eye disease v1.37 TOGARAM1 Ivone Leong Classified gene: TOGARAM1 as Amber List (moderate evidence)
Structural eye disease v1.37 TOGARAM1 Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). Based on the available evidence this gene has been given an Amber rating.
Structural eye disease v1.37 TOGARAM1 Ivone Leong Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.36 TOGARAM1 Ivone Leong Tag watchlist tag was added to gene: TOGARAM1.
Structural eye disease v1.36 CDON Ivone Leong Classified gene: CDON as Amber List (moderate evidence)
Structural eye disease v1.36 CDON Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted from Amber to Green at the next review.
Structural eye disease v1.36 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.35 CDON Ivone Leong Tag for-review tag was added to gene: CDON.
Structural eye disease v1.35 FZD5 Ivone Leong commented on gene: FZD5: This gene should be promoted from Amber to Green at the next review.
Structural eye disease v1.35 FZD5 Ivone Leong Publications for gene: FZD5 were set to 26908622
Structural eye disease v1.34 FZD5 Ivone Leong Tag for-review tag was added to gene: FZD5.
Structural eye disease v1.34 RHOA Ivone Leong Classified gene: RHOA as Amber List (moderate evidence)
Structural eye disease v1.34 RHOA Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). Based on the available evidence this gene has been given an Amber rating.
Structural eye disease v1.34 RHOA Ivone Leong Gene: rhoa has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.33 RHOA Ivone Leong Tag watchlist tag was added to gene: RHOA.
Structural eye disease v1.33 CENPF Ivone Leong changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene should be promoted to Green status when the panel is reviewed.; to: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted to Green status when the panel is reviewed.
Structural eye disease v1.33 NUP188 Ivone Leong Tag watchlist tag was added to gene: NUP188.
Structural eye disease v1.33 NUP188 Ivone Leong Classified gene: NUP188 as Amber List (moderate evidence)
Structural eye disease v1.33 NUP188 Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene has been promoted from Red to Amber based on available evidence.
Structural eye disease v1.33 NUP188 Ivone Leong Gene: nup188 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.32 SEMA3E Ivone Leong Publications for gene: SEMA3E were set to
Structural eye disease v1.31 CENPF Ivone Leong Classified gene: CENPF as Amber List (moderate evidence)
Structural eye disease v1.31 CENPF Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene should be promoted to Green status when the panel is reviewed.
Structural eye disease v1.31 CENPF Ivone Leong Gene: cenpf has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.30 CENPF Ivone Leong Tag for-review tag was added to gene: CENPF.
Structural eye disease v1.30 CRYBB1 Ivone Leong commented on gene: CRYBB1: This gene has been tagged "for-review" at the next GMS panel review and should be promoted to Green based on evidence provided by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust).
Structural eye disease v1.30 CRYBB1 Ivone Leong Tag for-review tag was added to gene: CRYBB1.
Structural eye disease v1.30 CRYBB1 Ivone Leong Publications for gene: CRYBB1 were set to 29386872
Structural eye disease v1.29 KIF26B Nicola Ragge reviewed gene: KIF26B: Rating: RED; Mode of pathogenicity: ; Publications: 26571382, 32799327; Phenotypes: ; Mode of inheritance:
Structural eye disease v1.29 DYRK1A Nicola Ragge reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 19081073; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.29 CDK5RAP2 Nicola Ragge reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32015000, 31355417; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM:604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.29 WDR37 Nicola Ragge reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327510, 32530092; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.29 TOGARAM1 Nicola Ragge reviewed gene: TOGARAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32453716, 32747439; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.29 CDON Nicola Ragge reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: ; Publications: 32729136, 31502381, 31502381, 19754878; Phenotypes: Holoprosencephaly 11, MIM:614226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.29 FZD5 Nicola Ragge edited their review of gene: FZD5: Added comment: Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.; Changed rating: GREEN; Changed publications: 26908622, 32737437; Set current diagnostic: yes
Structural eye disease v1.29 CAPN15 Nicola Ragge reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: ; Mode of inheritance:
Structural eye disease v1.29 RHOA Nicola Ragge reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: 31821646, 31570889; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.29 NUP188 Nicola Ragge reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: ; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanove Syndrome, AR, MIM:618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.29 SEMA3E Nicola Ragge edited their review of gene: SEMA3E: Added comment: Lalani et al. published case with CHARGE syndrome including iris coloboma with a de novo missense mutation in SEMA3E as well as balanced translocation - not convincing. Liu et al. published a zebrafish knockout with small eyes. ; Changed publications: 15235037, 31464029
Structural eye disease v1.29 CENPF Nicola Ragge reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8261651, 26820108, 28407396, 31953238; Phenotypes: Stromme syndrome, MIM:600236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.29 RARA Nicola Ragge reviewed gene: RARA: Rating: RED; Mode of pathogenicity: ; Publications: 31343737; Phenotypes: ; Mode of inheritance:
Structural eye disease v1.29 CRYBB1 Nicola Ragge edited their review of gene: CRYBB1: Added comment: Sun: simplex case with cataract coloboma with a rare missense variant. ; Jin et al. 2019 have published large dominant pedigree with cataract and microphthalmia with novel missense variant segregating. Willougby reported a novel stoploss variant segregating in a family with cataract and microcornea.; Changed rating: GREEN; Changed publications: 31566446, 16110300; Set current diagnostic: yes
Structural eye disease v1.28 KIF26B Ivone Leong gene: KIF26B was added
gene: KIF26B was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF26B were set to 26571382; 32799327
Structural eye disease v1.28 DYRK1A Ivone Leong gene: DYRK1A was added
gene: DYRK1A was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 19081073; 28135719
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, OMIM:614104
Structural eye disease v1.28 CDK5RAP2 Ivone Leong gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 31355417; 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, OMIM:604804, MONDO:0011488
Structural eye disease v1.28 TOGARAM1 Ivone Leong gene: TOGARAM1 was added
gene: TOGARAM1 was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to TOGARAM1-related ciliopathy
Structural eye disease v1.28 CDON Ivone Leong gene: CDON was added
gene: CDON was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDON were set to 31502381; 19754878; 32729136
Phenotypes for gene: CDON were set to Holoprosencephaly 11, OMIM:614226, MONDO:0013642
Structural eye disease v1.28 RHOA Ivone Leong gene: RHOA was added
gene: RHOA was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOA were set to 31821646; 31570889
Phenotypes for gene: RHOA were set to ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Structural eye disease v1.28 NUP188 Ivone Leong gene: NUP188 was added
gene: NUP188 was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 32021605; 32275884
Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926
Structural eye disease v1.28 CENPF Ivone Leong gene: CENPF was added
gene: CENPF was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 28407396; 8261651; 31953238; 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, OMIM:243605, MONDO:0009477
Structural eye disease v1.27 NF2 Eleanor Williams Tag for review was removed from gene: NF2.
Tag for-review tag was added to gene: NF2.
Structural eye disease v1.27 NF2 Eleanor Williams Classified gene: NF2 as Red List (low evidence)
Structural eye disease v1.27 NF2 Eleanor Williams Added comment: Comment on list classification: Leaving this gene for red now, but flagging for review by the GMS as ocular manifestations other than cataracts are seen in some patients.
Structural eye disease v1.27 NF2 Eleanor Williams Gene: nf2 has been classified as Red List (Low Evidence).
Structural eye disease v1.26 NF2 Eleanor Williams Phenotypes for gene: NF2 were changed from Neurofibromatosis, Type II, 101000 to Neurofibromatosis, type 2 OMIM:101000; neurofibromatosis type 2 MONDO:0007039
Structural eye disease v1.25 NF2 Eleanor Williams Publications for gene: NF2 were set to
Structural eye disease v1.24 NF2 Eleanor Williams edited their review of gene: NF2: Changed rating: AMBER; Changed publications: 33075808, 31089872, 29923868, 9246269, 12210058; Changed phenotypes: Neurofibromatosis, type 2 OMIM:101000, neurofibromatosis type 2 MONDO:0007039; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v1.24 NF2 Eleanor Williams Tag for review tag was added to gene: NF2.
Structural eye disease v1.24 NF2 Eleanor Williams changed review comment from: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma.; to: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma.

Additional papers supporting association of variants in NF2 and eye abnormalities

PMID: 31089872 - Waisberg et al 2019 - report on the eye examination of 8 unrelated NF2 patients from Brazil. 6 had germline variants (nonsense, frameshift, or splice site) in NF2. Ophthalmological features were present in all patients and varied from subtle retinal changes to a severe ocular phenotype preset at birth. Of those 6 with NF2 variants: cataracts 4/6, Hamartoma 4/6, Flame-shaped ERM 5/6, Strabismus 3/6, Retinal Tuft 2/6 and Choroidal nodules 3/6.

PMID: 29923868 - Painter et al 2019 - reviewed longitudinal ophthalmological data of 83 patients with NF2 who had a mutation present on blood testing, or identical mutations found in 2 or more tissue samples, or they met the updated Manchester modified criteria for a clinical diagnosis of NF2. Mutations in NF2 associated with severe systemic disease were found to result in greater visual morbidity at an earlier age.

PMID: 12210058 - Chan et al 2002 - looked at 40 ocular lesions from four NF2 patients, from three unrelated families. All had germline nonsense mutations in NF2. Cataracts were evident by pseudophakia in seven eyes, iris naevoid hyperplasia at the anterior surface in two eyes of two patients, and retinal lesions in all eyes.

PMID: 9246269 - Ragge et al 1997 - report 5 unrelated cases of patients with Neurofibromatosis 2 to illustrate the diverse ocular phenotypes seen in patients. Molecular analysis not given. The authors note that ocular manifestations are often the first sign of disease.
Structural eye disease v1.24 PLK4 Ivone Leong Classified gene: PLK4 as Amber List (moderate evidence)
Structural eye disease v1.24 PLK4 Ivone Leong Gene: plk4 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.23 PLK4 Ivone Leong gene: PLK4 was added
gene: PLK4 was added to Structural eye disease. Sources: Literature
watchlist tags were added to gene: PLK4.
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 25344692; 25320347; 27650967
Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516
Review for gene: PLK4 was set to AMBER
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID: 25344692 describes 3 unrelated families with affected individuals who have biallelic variants in PLK4. All affected individuals have impaired growth/short stature. In one family 3 out of 7 affected individuals have an eye phenotype (ranging from microcornea, microphthalmia and cataract). Family 2 had retinopathy and family 3 did not have an eye exam performed.

PMID: 27650967 describes a case where the affected individual has bilateral microphthalmia and persistant hyperplastic primary vitreous of the left eye. The affected individual also has growth impairment.

PMID: 25320347 describes a case where the affected individuals have retinopathy and impaired growth.

As there are 2 unrelated cases there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Sources: Literature
Structural eye disease v1.22 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32791987; Phenotypes: Anterior segment dysgenesis, microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.22 NF2 Eleanor Williams changed review comment from: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose result defects leading to persistent coloboma.; to: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma.
Structural eye disease v1.22 NF2 Eleanor Williams reviewed gene: NF2: Rating: ; Mode of pathogenicity: None; Publications: 33075808; Phenotypes: ; Mode of inheritance: None
Structural eye disease v1.22 CAPN15 Eleanor Williams changed review comment from: Publication relating to previous conference abstract now available:
PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).; to: Publication relating to previous conference abstract now available:
PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Structural eye disease v1.22 CAPN15 Eleanor Williams Phenotypes for gene: CAPN15 were changed from Anophthalmia, microphthalmia and coloboma to microphthalmia HP:0000568; coloboma HP:0000589
Structural eye disease v1.21 CAPN15 Eleanor Williams Publications for gene: CAPN15 were set to
Structural eye disease v1.20 CAPN15 Eleanor Williams Tag watchlist was removed from gene: CAPN15.
Tag for-review tag was added to gene: CAPN15.
Structural eye disease v1.20 CAPN15 Eleanor Williams Classified gene: CAPN15 as Amber List (moderate evidence)
Structural eye disease v1.20 CAPN15 Eleanor Williams Added comment: Comment on list classification: Promoting gene from red to amber, but with recommendation for green rating following GMS review.
Structural eye disease v1.20 CAPN15 Eleanor Williams Gene: capn15 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.19 CAPN15 Eleanor Williams edited their review of gene: CAPN15: Added comment: Publication relating to previous conference abstract now available:
PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).; Changed rating: GREEN; Changed publications: 32885237; Changed phenotypes: microphthalmia HP:0000568, coloboma HP:0000589
Structural eye disease v1.19 SLC38A8 Eleanor Williams Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Structural eye disease v1.18 SLC38A8 Eleanor Williams Publications for gene: SLC38A8 were set to 24045842
Structural eye disease v1.17 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: ; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.17 CDH2 Arina Puzriakova Classified gene: CDH2 as Amber List (moderate evidence)
Structural eye disease v1.17 CDH2 Arina Puzriakova Added comment: Comment on list classification: Gene added following discussion with Helen Brittain (Genomics England Clinical Team) who indicated this panel may be applicable in view of the ocular abnormalities observed in some individuals with CDH2 variants. However, as the eye phenotypes were diverse, this warrants phenotypic consideration by the GMS team to assess the relevance to this panel (added 'for-review' tag)
Structural eye disease v1.17 CDH2 Arina Puzriakova Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.16 CDH2 Arina Puzriakova gene: CDH2 was added
gene: CDH2 was added to Structural eye disease. Sources: Literature
for-review tags were added to gene: CDH2.
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31585109; 31650526
Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Review for gene: CDH2 was set to AMBER
Added comment: Associated with relevant phenotype in OMIM, and is a 'probable' gene for 'Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects' in Gene2Phenotype.

2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various ocular abnormalities (11/13). Eye phenotype was variable and includes Peters anomaly, glaucoma, cataract, Duane anomaly, strabismus.

Cdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817).
Sources: Literature
Structural eye disease v1.15 MAPRE2 Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734 to Symmetric circumferential skin creases, congenital, 2, 616734
Structural eye disease v1.14 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to 26637975
Structural eye disease v1.13 MAPRE2 Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v1.12 FOXC1 Eleanor Williams Publications for gene: FOXC1 were set to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756
Structural eye disease v1.11 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None
Structural eye disease v1.11 LRP5 Sarah Leigh Added comment: Comment on mode of inheritance: The eye disorders relevant to this panel are associated with Osteoporosis-pseudoglioma syndrome 259770, which is biallelic. Exudative vitreoretinopathy 4, 601813, which can be biallelic or monoallelic is relavant to the Retinal disorders panel, where both biallelic and monoallelic variants are considered (https://panelapp.genomicsengland.co.uk/panels/307/gene/LRP5/#!review).
Structural eye disease v1.11 LRP5 Sarah Leigh Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.10 LRP5 Sarah Leigh Publications for gene: LRP5 were set to 29131652, 28111184, 20034086
Structural eye disease v1.9 TENM3 Arina Puzriakova reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22766609, 27103084, 30513139, 29753094; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.9 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Structural eye disease v1.9 SPATA13 Eleanor Williams Tag adult-onset tag was added to gene: SPATA13.
Structural eye disease v1.9 SPATA13 Eleanor Williams gene: SPATA13 was added
gene: SPATA13 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPATA13 were set to 32339198
Phenotypes for gene: SPATA13 were set to primary angle-closure glaucoma
Review for gene: SPATA13 was set to RED
Added comment: PMID: 32339198 Waseem et al report 1 large UK family and 8 unrelated individuals with variants in SPATA13 and primary angle-closure glaucoma. This is sufficient to rate this gene green for the disease association, however as the disease is adult-onset in these patients it is not appropriate to rate it green on this panel. Adding as red on advice of Genomics England Clinical team so that it will be reviewed if the scope of the panel changes in future.
Sources: Literature
Structural eye disease v1.8 CAPN15 Eleanor Williams Tag watchlist tag was added to gene: CAPN15.
Structural eye disease v1.8 CAPN15 Eleanor Williams changed review comment from: ESHG2020 - C06.4 - Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia - Zha et al. Describe a Capn15 mouse knockout with cataract and microphthalmia, and three human cases with phenotypes including growth delay (2/3), cataracts (1/3), coloboma (2/3) and microphthalmia (2/3). They were identified with homozygous or compound heterozygous likely pathogenic variants in CAPN15.
No publication relating to this work has been identified in PubMed at this time.
Sources: Literature; to: Conference talk/abstract from ESHG2020 - C06.4 - Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia - Zha et al. Describe a Capn15 mouse knockout with cataract and microphthalmia, and three human cases with phenotypes including growth delay (2/3), cataracts (1/3), coloboma (2/3) and microphthalmia (2/3). They were identified with homozygous or compound heterozygous likely pathogenic variants in CAPN15.
No publication relating to this work has been identified in PubMed at this time.
Sources: Literature
Structural eye disease v1.8 CAPN15 Eleanor Williams gene: CAPN15 was added
gene: CAPN15 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN15 were set to Anophthalmia, microphthalmia and coloboma
Review for gene: CAPN15 was set to RED
Added comment: ESHG2020 - C06.4 - Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia - Zha et al. Describe a Capn15 mouse knockout with cataract and microphthalmia, and three human cases with phenotypes including growth delay (2/3), cataracts (1/3), coloboma (2/3) and microphthalmia (2/3). They were identified with homozygous or compound heterozygous likely pathogenic variants in CAPN15.
No publication relating to this work has been identified in PubMed at this time.
Sources: Literature
Structural eye disease v1.7 C16orf62 Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence)
Structural eye disease v1.7 C16orf62 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 31712251).
Structural eye disease v1.7 C16orf62 Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.6 C16orf62 Sarah Leigh gene: C16orf62 was added
gene: C16orf62 was added to Structural eye disease. Sources: Literature
new-gene-name tags were added to gene: C16orf62.
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 31712251
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L)
Sources: Literature
Structural eye disease v1.4 Eleanor Williams Panel version has been signed off
Structural eye disease v1.3 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Structural eye disease v1.2 MYRF Ivone Leong Phenotypes for gene: MYRF were changed from Nanophthalmos to Nanophthalmos; High hyperopia
Structural eye disease v1.1 MYRF Ivone Leong Publications for gene: MYRF were set to 31266062
Structural eye disease v1.0 MYRF Owen Siggs reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31048900, 31172260, 31266062, 31700225; Phenotypes: Nanophthalmos, High hyperopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.0 Ivone Leong promoted panel to version 1.0
Structural eye disease v0.99 HMX1 Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected from Both monoallelic and biallelic to Biallelic based on reviewers comments and OMIM.
Structural eye disease v0.99 HMX1 Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.98 WDR37 Ivone Leong Classified gene: WDR37 as Red List (low evidence)
Structural eye disease v0.98 WDR37 Ivone Leong Added comment: Comment on list classification: New gene submitted by reviewer. I have made this gene a Red gene as the current panel has already been finalised. This gene can be considered for a new gene rating in the next review iteration.
Structural eye disease v0.98 WDR37 Ivone Leong Gene: wdr37 has been classified as Red List (Low Evidence).
Structural eye disease v0.97 WDR37 Ivone Leong Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508
Structural eye disease v0.96 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Structural eye disease v0.95 WDR37 Zerin Hyder gene: WDR37 was added
gene: WDR37 was added to Structural eye disease. Sources: Other
Mode of inheritance for gene: WDR37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR37 were set to PMID:31327510, PMID:31327508
Phenotypes for gene: WDR37 were set to corneal opacity; Peters anomaly; coloboma; microcornea
Penetrance for gene: WDR37 were set to unknown
Review for gene: WDR37 was set to AMBER
Added comment: Features of WDR37 syndrome include the following: ocular anomalies such as corneal opacity/Peters anomaly, coloboma, and microcornea; dysmorphic facial features; significant neurological impairment with structural brain defects and seizures; poor feeding; poor post-natal growth; variable skeletal, cardiac, and genitourinary defects.

The probands in one paper exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia
Sources: Other
Structural eye disease v0.95 RARA Ivone Leong gene: RARA was added
gene: RARA was added to Structural eye disease. Sources: Expert list
Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RARA were set to 31343737
Phenotypes for gene: RARA were set to Coloboma
Review for gene: RARA was set to RED
Added comment: Gene added on behalf of Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust).

There is currently only 1 reported case of a de novo variant in RARA in a patient with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). Therefore, this gene has been given a Red rating until further evidence is available.
Sources: Expert list
Structural eye disease v0.94 NAA10 Ivone Leong Classified gene: NAA10 as Green List (high evidence)
Structural eye disease v0.94 NAA10 Ivone Leong Added comment: Comment on list classification: Promoted to Green based on expert review.
Structural eye disease v0.94 NAA10 Ivone Leong Gene: naa10 has been classified as Green List (High Evidence).
Structural eye disease v0.93 CRYAA Catherine Snow Added comment: Comment on mode of inheritance: OMIM with publication support has this both AD and AR therefore changing MOI to both monoallelic and biallelic.
Structural eye disease v0.93 CRYAA Catherine Snow Mode of inheritance for gene: CRYAA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.92 FKRP Ivone Leong Classified gene: FKRP as Amber List (moderate evidence)
Structural eye disease v0.92 FKRP Ivone Leong Gene: fkrp has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.91 MYRF Nicola Ragge reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31266062; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 CSPP1 Nicola Ragge reviewed gene: CSPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 WNT3 Nicola Ragge reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 TUBB Nicola Ragge reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: 26637975; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 SNX3 Nicola Ragge reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: ; Publications: 12471201; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 SMO Nicola Ragge edited their review of gene: SMO: Added comment: Twigg 2016: 8 individuals with somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]). 4 of the individuals present coloboma and/microphthalmia. ; Set current diagnostic: yes
Structural eye disease v0.91 SMG9 Nicola Ragge reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: 27018474; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 SLC25A24 Nicola Ragge reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: 29100093; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 TMEM5 Nicola Ragge reviewed gene: TMEM5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 RIPK4 Nicola Ragge reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23074676, 22197488, 22197489 ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 RERE Nicola Ragge reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27087320, 29330883 ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 POMT2 Nicola Ragge edited their review of gene: POMT2: Added comment: Van Reeuwijk, three families with Walker-Warburg syndrome, one case with Peter's anomaly, congenital cataract and microphthalmia and homozygous nonsense variant. The other cases had congenital cataract (homozygous splice site variant) and cataract/buphthalmos (homozygous frameshift). Nabhan family of four diseased siblings with Walker/Warburg syndrome, oldest sibling had microphthalmia, all siblings have homozygous missense. ; Changed rating: GREEN; Changed publications: 15894594, 28815891; Set current diagnostic: yes
Structural eye disease v0.91 POMT1 Nicola Ragge edited their review of gene: POMT1: Added comment: Bernabe 3 families with microphthalmia among 7 families with Walker-Warburg syndrome, one with homozygous missense, one with homozygous nonsense, one with compound het missense/frameshift. Three other families described have buphthalmos, lens opacities and/or cataracts. All variants segregate. Kim one case with microphthalmia with homozygous in-frame deletion.; Changed publications: 12369018, 15037715; Set current diagnostic: yes
Structural eye disease v0.91 POMGNT2 Nicola Ragge reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 POMGNT1 Nicola Ragge reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19679478, 19452620, 28765568, 11709191, 0961548; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 FANCL Nicola Ragge reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: 25754594; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 OLFM2 Nicola Ragge edited their review of gene: OLFM2: Added comment: Holt reports two cases, one with a de novo CNV involving an additional gene and one with a 5' UTR variant which is inherited from an unaffected parent.; Changed publications: 27844144, 17122126; Set current diagnostic: yes
Structural eye disease v0.91 NDUFB11 Nicola Ragge reviewed gene: NDUFB11: Rating: RED; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 MITF Nicola Ragge edited their review of gene: MITF: Added comment: Dominant variants are associated with Waardenburg syndrome, however George et al reported two cases with compound het changes and a new syndrome including microphthalmia (COMMAD syndrome): one case with compound heterozygous changes for missense/in-frame deletion segregating in parents - inframe deletion was previously shown to lack DNA binding or regulate target-gene promotors in mice (Grill paper), another unrelated case with missense and splice site variant segregating in parents plus convincing evidence in mouse and cell models that these variants are pathogenic. Steingrimsson published first paper on MITF variants causing microphthalmia in mice ; Changed publications: 27889061, 23787126, 7874168; Set current diagnostic: yes
Structural eye disease v0.91 MAPRE2 Nicola Ragge reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26637975; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 KIF11 Nicola Ragge reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27212378; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 KDM6A Nicola Ragge reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29617172, 29300383; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 ISPD Nicola Ragge edited their review of gene: ISPD: Added comment: Roscioli: six Walker-Warburg cases with microphthalmia and one with Peter's anomaly, full segregation of homozygous or compound heterozygous variants. Morpholino treated zebrafish have significantly smaller eyes.; Set current diagnostic: yes
Structural eye disease v0.91 IKBKG Nicola Ragge reviewed gene: IKBKG: Rating: RED; Mode of pathogenicity: ; Publications: 31119873, 20499493, 30905793 ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 GLI2 Nicola Ragge edited their review of gene: GLI2: Added comment: Rahimov one family with anophthalmia,segregation unknown; Bertolacini one case with anophthalmia with de novo missense now benign in Clinvar ; Changed publications: 17096318, 21204792; Set current diagnostic: yes
Structural eye disease v0.91 FKTN Nicola Ragge reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 FKRP Nicola Ragge edited their review of gene: FKRP: Added comment: Van reeuwijk: one family with Walker -Warburg syndrome and microphthalmia with homozygous variant in start codon segregating in parents; Bernabe one case with microphthalmia and coloboma with homozygous missense, segregation unknown; Kawahara zebrafish model; Chan: mouse model. ; Changed rating: AMBER; Changed publications: 20236121, 15121789, 19955119, 20675713 ; Set current diagnostic: yes
Structural eye disease v0.91 FANCI Nicola Ragge reviewed gene: FANCI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 FANCE Nicola Ragge reviewed gene: FANCE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 FANCD2 Nicola Ragge reviewed gene: FANCD2: Rating: RED; Mode of pathogenicity: ; Publications: 12893777; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 FANCA Nicola Ragge reviewed gene: FANCA: Rating: RED; Mode of pathogenicity: ; Publications: 12913077, 8502512; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 ESCO2 Nicola Ragge reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380922, 19574259; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 DOCK6 Nicola Ragge reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: 25824905; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 DAG1 Nicola Ragge reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24052401, 25934851; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 C5orf42 Nicola Ragge edited their review of gene: C5orf42: Added comment: Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not available; Set current diagnostic: yes
Structural eye disease v0.91 COX7B Nicola Ragge reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23122588; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 B3GALNT2 Nicola Ragge reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453667; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.91 ALX3 Nicola Ragge reviewed gene: ALX3: Rating: RED; Mode of pathogenicity: ; Publications: 19409524; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.91 ALX1 Nicola Ragge reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20451171, 23059813; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.90 MYRF Ivone Leong Phenotypes for gene: MYRF were changed from to Nanophthalmos
Structural eye disease v0.89 MYRF Ivone Leong gene: MYRF was added
gene: MYRF was added to Structural eye disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 31266062
Structural eye disease v0.89 CSPP1 Ivone Leong Source NHS GMS was added to CSPP1.
Source Expert Review Red was added to CSPP1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 WNT3 Ivone Leong Source NHS GMS was added to WNT3.
Source Expert Review Red was added to WNT3.
Publications for gene WNT3 were changed from to 14872406
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 TUBB Ivone Leong Source NHS GMS was added to TUBB.
Publications for gene TUBB were changed from to 26637975
Structural eye disease v0.89 SNX3 Ivone Leong Source NHS GMS was added to SNX3.
Source Expert Review Red was added to SNX3.
Publications for gene SNX3 were changed from to 12471201
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 SMG9 Ivone Leong Source NHS GMS was added to SMG9.
Publications for gene SMG9 were changed from to 27018474
Structural eye disease v0.89 SLC25A24 Ivone Leong Source NHS GMS was added to SLC25A24.
Publications for gene SLC25A24 were changed from to 29100093
Structural eye disease v0.89 TMEM5 Ivone Leong Source NHS GMS was added to TMEM5.
Source Expert Review Red was added to TMEM5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 RIPK4 Ivone Leong Source Expert Review Green was added to RIPK4.
Source NHS GMS was added to RIPK4.
Publications for gene RIPK4 were changed from to 22197489; 23074676; 22197488
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 RERE Ivone Leong Source Expert Review Green was added to RERE.
Source NHS GMS was added to RERE.
Publications for gene RERE were changed from to 27087320; 29330883
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 POMT2 Ivone Leong Source Expert Review Green was added to POMT2.
Publications for gene POMT2 were changed from 28815891; 15894594 to 15894594; 28815891
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 POMT1 Ivone Leong Publications for gene POMT1 were changed from 15037715; 12369018 to 12369018; 15037715
Structural eye disease v0.89 POMGNT2 Ivone Leong Source NHS GMS was added to POMGNT2.
Publications for gene POMGNT2 were changed from to 22958903
Structural eye disease v0.89 POMGNT1 Ivone Leong Source Expert Review Green was added to POMGNT1.
Source NHS GMS was added to POMGNT1.
Publications for gene POMGNT1 were changed from to 0961548; 19452620; 28765568; 11709191; 19679478
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 FANCL Ivone Leong Source NHS GMS was added to FANCL.
Publications for gene FANCL were changed from to 25754594
Structural eye disease v0.89 OLFM2 Ivone Leong Publications for gene OLFM2 were changed from 27844144 to 27844144; 17122126
Structural eye disease v0.89 NDUFB11 Ivone Leong Source NHS GMS was added to NDUFB11.
Source Expert Review Red was added to NDUFB11.
Publications for gene NDUFB11 were changed from to 25772934
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 MITF Ivone Leong Publications for gene MITF were changed from 27889061 to 7874168; 27889061; 23787126
Structural eye disease v0.89 MAPRE2 Ivone Leong Source Expert Review Green was added to MAPRE2.
Source NHS GMS was added to MAPRE2.
Publications for gene MAPRE2 were changed from to 26637975
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 KIF11 Ivone Leong Source NHS GMS was added to KIF11.
Publications for gene KIF11 were changed from to 27212378
Structural eye disease v0.89 KDM6A Ivone Leong Source NHS GMS was added to KDM6A.
Publications for gene KDM6A were changed from to 29617172; 29300383
Structural eye disease v0.89 IKBKG Ivone Leong Source NHS GMS was added to IKBKG.
Source Expert Review Red was added to IKBKG.
Publications for gene IKBKG were changed from to 31119873; 20499493; 30905793
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 GLI2 Ivone Leong Publications for gene GLI2 were changed from 17096318; 21204792 to 21204792; 17096318
Structural eye disease v0.89 FKTN Ivone Leong Source Expert Review Green was added to FKTN.
Source NHS GMS was added to FKTN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 FKRP Ivone Leong Publications for gene FKRP were changed from 20675713; 19955119; 20236121; 15121789 to 15121789; 20675713; 19955119; 20236121
Structural eye disease v0.89 FANCI Ivone Leong Source NHS GMS was added to FANCI.
Source Expert Review Red was added to FANCI.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 FANCE Ivone Leong Source NHS GMS was added to FANCE.
Source Expert Review Red was added to FANCE.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 FANCD2 Ivone Leong Source NHS GMS was added to FANCD2.
Source Expert Review Red was added to FANCD2.
Publications for gene FANCD2 were changed from to 12893777
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 FANCA Ivone Leong Source NHS GMS was added to FANCA.
Source Expert Review Red was added to FANCA.
Publications for gene FANCA were changed from to 8502512; 12913077
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 ESCO2 Ivone Leong Source Expert Review Green was added to ESCO2.
Source NHS GMS was added to ESCO2.
Publications for gene ESCO2 were changed from to 16380922; 19574259
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 DOCK6 Ivone Leong Source Expert Review Green was added to DOCK6.
Source NHS GMS was added to DOCK6.
Publications for gene DOCK6 were changed from to 25824905
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 DAG1 Ivone Leong Source NHS GMS was added to DAG1.
Publications for gene DAG1 were changed from to 25934851; 24052401
Structural eye disease v0.89 COX7B Ivone Leong Source NHS GMS was added to COX7B.
Publications for gene COX7B were changed from to 23122588
Structural eye disease v0.89 B3GALNT2 Ivone Leong Source Expert Review Green was added to B3GALNT2.
Source NHS GMS was added to B3GALNT2.
Publications for gene B3GALNT2 were changed from to 23453667
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.89 ALX3 Ivone Leong Source NHS GMS was added to ALX3.
Source Expert Review Red was added to ALX3.
Publications for gene ALX3 were changed from to 19409524
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Structural eye disease v0.89 ALX1 Ivone Leong Source NHS GMS was added to ALX1.
Publications for gene ALX1 were changed from to 20451171; 23059813
Structural eye disease v0.88 CSPP1 Ivone Leong Source Expert Review Amber was added to CSPP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 WNT3 Ivone Leong Source Expert Review Amber was added to WNT3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 TUBB Ivone Leong Source Expert Review Amber was added to TUBB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SNX3 Ivone Leong Source Expert Review Amber was added to SNX3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SMG9 Ivone Leong Source Expert Review Amber was added to SMG9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SLC25A24 Ivone Leong Source Expert Review Amber was added to SLC25A24.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 TMEM5 Ivone Leong Source Expert Review Amber was added to TMEM5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 RIPK4 Ivone Leong Source Expert Review Amber was added to RIPK4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 RERE Ivone Leong Source Expert Review Amber was added to RERE.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 POMGNT2 Ivone Leong Source Expert Review Amber was added to POMGNT2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 POMGNT1 Ivone Leong Source Expert Review Amber was added to POMGNT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCL Ivone Leong Source Expert Review Amber was added to FANCL.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 NDUFB11 Ivone Leong Source Expert Review Amber was added to NDUFB11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 MAPRE2 Ivone Leong Source Expert Review Amber was added to MAPRE2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 KIF11 Ivone Leong Source Expert Review Amber was added to KIF11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 KDM6A Ivone Leong Source Expert Review Amber was added to KDM6A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 IKBKG Ivone Leong Source Expert Review Amber was added to IKBKG.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FKTN Ivone Leong Source Expert Review Amber was added to FKTN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCI Ivone Leong Source Expert Review Amber was added to FANCI.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCE Ivone Leong Source Expert Review Amber was added to FANCE.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCD2 Ivone Leong Source Expert Review Amber was added to FANCD2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCA Ivone Leong Source Expert Review Amber was added to FANCA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 ESCO2 Ivone Leong Source Expert Review Amber was added to ESCO2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 DOCK6 Ivone Leong Source Expert Review Amber was added to DOCK6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 DAG1 Ivone Leong Source Expert Review Amber was added to DAG1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 COX7B Ivone Leong Source Expert Review Amber was added to COX7B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.87 ALX1 Ivone Leong Classified gene: ALX1 as Amber List (moderate evidence)
Structural eye disease v0.87 ALX1 Ivone Leong Gene: alx1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.86 ALX3 Ivone Leong Classified gene: ALX3 as Amber List (moderate evidence)
Structural eye disease v0.86 ALX3 Ivone Leong Gene: alx3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.85 B3GALNT2 Ivone Leong Classified gene: B3GALNT2 as Amber List (moderate evidence)
Structural eye disease v0.85 B3GALNT2 Ivone Leong Gene: b3galnt2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.84 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Structural eye disease v0.84 HARS Louise Daugherty commented on gene: HARS
Structural eye disease v0.84 Ivone Leong List of related panels changed from to R36
Structural eye disease v0.83 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600; 30425282; 30237576; 24285566; 29450879
Structural eye disease v0.82 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600
Structural eye disease v0.81 KIAA0586 Ivone Leong reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: 30055837; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.81 SCLT1 Anna de Burca reviewed gene: SCLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30425282, 30237576, 24285566, 29450879; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.80 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Structural eye disease. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KIAA0586 was set to
Publications for gene: KIAA0586 were set to 30055837
Structural eye disease v0.80 SCLT1 Ivone Leong Source Expert Review Amber was added to SCLT1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Structural eye disease v0.79 TMEM237 Ivone Leong Classified gene: TMEM237 as Green List (high evidence)
Structural eye disease v0.79 TMEM237 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert review.
Structural eye disease v0.79 TMEM237 Ivone Leong Gene: tmem237 has been classified as Green List (High Evidence).
Structural eye disease v0.78 TMEM216 Ivone Leong Classified gene: TMEM216 as Green List (high evidence)
Structural eye disease v0.78 TMEM216 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert review.
Structural eye disease v0.78 TMEM216 Ivone Leong Gene: tmem216 has been classified as Green List (High Evidence).
Structural eye disease v0.76 FAT1 Nicola Ragge reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30862798, 12724416 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SMAD4 Nicola Ragge reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 20735985, 11977156; Phenotypes: Myhre syndrome, 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRR12 Nicola Ragge reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 POMT2 Nicola Ragge reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15894594, 28815891; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 POMT1 Nicola Ragge reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12369018, 15037715; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 OLFM2 Nicola Ragge reviewed gene: OLFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27844144; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MITF Nicola Ragge reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061; Phenotypes: COMMAD syndrome, 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KIAA1109 Nicola Ragge reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290337, 617822; Phenotypes: Alkuraya-Kucinskas syndrome, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ISPD Nicola Ragge reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522421; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 IPO13 Nicola Ragge reviewed gene: IPO13: Rating: AMBER; Mode of pathogenicity: ; Publications: 29700284; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GLI2 Nicola Ragge reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17096318, 21204792; Phenotypes: Holoprosencephaly 9, 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FKRP Nicola Ragge reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20236121, 15121789, 19955119, 20675713 ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 EFTUD2 Nicola Ragge reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26118977; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536; Mode of inheritance: mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CPAMD8 Nicola Ragge reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ZIC2 Nicola Ragge reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454; Phenotypes: Holoprosencephaly 5, 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ZEB2 Nicola Ragge reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16053902; Phenotypes: Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ZEB1 Nicola Ragge reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 3, Corneal dystrophy, Fuchs endothelial, 6, 609141, 613270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 WRN Nicola Ragge reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner syndrome , 277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 VSX1 Nicola Ragge reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 15051220; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, Keratoconus 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, 122000, 148300, 614195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 VIM Nicola Ragge reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 30, pulverulent, 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 UBIAD1 Nicola Ragge reviewed gene: UBIAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, Schnyder type, 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TMX3 Nicola Ragge reviewed gene: TMX3: Rating: AMBER; Mode of pathogenicity: ; Publications: Chao et al 2010 PMID: 20485507; Phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia , None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TGFBI Nicola Ragge reviewed gene: TGFBI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Thiel-Behnke type, Corneal dystrophy, Avellino type, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, lattice type IIIA, 121820, 121900, 122200, 602082, 607541, 608470, 608471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TDRD7 Nicola Ragge reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 36, 613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TCOF1 Nicola Ragge reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 8741923, 10888597; Phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TBX22 Nicola Ragge reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: ; Publications: 22784330; Phenotypes: ?Abruzzo-Erickson syndrome, 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 TBC1D32 Nicola Ragge reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 24285566; Phenotypes: Orofaciodigital syndrome 9, 258865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TACSTD2 Nicola Ragge reviewed gene: TACSTD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, gelatinous drop-like, 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SRD5A3 Nicola Ragge reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PubMed: 20637498, 20700148, 26219881; Phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SMCHD1 Nicola Ragge reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28067909, 28067911; Phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SLC4A4 Nicola Ragge reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC4A11 Nicola Ragge reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy 2, autosomal recessive, Corneal dystrophy, Fuchs endothelial, 4, 217400, 217700, 613268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC38A8 Nicola Ragge reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC33A1 Nicola Ragge reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC2A1 Nicola Ragge reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SLC16A12 Nicola Ragge reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SIL1 Nicola Ragge reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SH3PXD2B Nicola Ragge reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 20137777, 29100834 ; Phenotypes: Frank-ter Haar syndrome, 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SEMA3E Nicola Ragge reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARGE, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SEC23A Nicola Ragge reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniolenticulosutural dysplasia, 607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SCLT1 Nicola Ragge reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: PubMed:24285566, 29450879; Phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SC5D Nicola Ragge reviewed gene: SC5D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LATHOSTEROLOSIS, 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SALL1 Nicola Ragge reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 9973281, PMID: 16088922, PMID: 17221874; Phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PXDN Nicola Ragge reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 24939590, 21907015, 29450879; Phenotypes: Corneal opacification and other ocular anomalies, 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PTCH1 Nicola Ragge reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 16024850, 17001668; Phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRDM5 Nicola Ragge reviewed gene: PRDM5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brittle cornea syndrome 2, 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PQBP1 Nicola Ragge reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 17033686; Phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 POLR1D Nicola Ragge reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome 2, 613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 POLR1C Nicola Ragge reviewed gene: POLR1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome, 248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PIKFYVE Nicola Ragge reviewed gene: PIKFYVE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal fleck dystrophy, 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PEX6 Nicola Ragge reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX5 Nicola Ragge reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX3 Nicola Ragge reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX26 Nicola Ragge reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX2 Nicola Ragge reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, 614866, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX19 Nicola Ragge reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX16 Nicola Ragge reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX14 Nicola Ragge reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX13 Nicola Ragge reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX12 Nicola Ragge reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX11B Nicola Ragge reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX10 Nicola Ragge reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6D Nicola Ragge reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID:24166846; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PAX3 Nicola Ragge reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Waardenburg syndrome, type 3, Waardenburg syndrome, type 1, 148820, 193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 P3H2 Nicola Ragge reviewed gene: P3H2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 OCRL Nicola Ragge reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 19168822; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 NOTCH2 Nicola Ragge reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: ; Publications: 22173065; Phenotypes: Hajdu-Cheney syndrome, Alagille syndrome 2, 102500, 610205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 NHS Nicola Ragge reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28922055, 23566852, 17417607 ; Phenotypes: Cataract 40, X-linked, Nance-Horan syndrome, 302200, 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 NF2 Nicola Ragge reviewed gene: NF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, Type II, 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MYH9 Nicola Ragge reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epstein Syndrome, Fechtner syndrome, 153650, 153640 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MIR184 Nicola Ragge reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EDICT syndrome, 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MIP Nicola Ragge reviewed gene: MIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 15, multiple types, 615274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MAN2B1 Nicola Ragge reviewed gene: MAN2B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LMX1B Nicola Ragge reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome, 161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 LIM2 Nicola Ragge reviewed gene: LIM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 19, 615277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LCAT Nicola Ragge reviewed gene: LCAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fish-eye disease, Norum disease, 136120, 245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LAMB2 Nicola Ragge reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30778388, 30120985, 28683731, 28188379, 27130041, 29450879; Phenotypes: Pierson syndrome, Nephrotic syndrome, type 5, with or without ocular abnormalities, 609049, 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KRT3 Nicola Ragge reviewed gene: KRT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 KRT12 Nicola Ragge reviewed gene: KRT12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 KMT2D Nicola Ragge reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 1 (can include coloboma), 147920, add review paper; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 KERA Nicola Ragge reviewed gene: KERA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornea plana congenita, recessive, 217300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KAT6B Nicola Ragge reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SBBYSS syndrome (blepharophimosis), 603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 JAM3 Nicola Ragge reviewed gene: JAM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ITPR1 Nicola Ragge reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gillespie syndrome, 206700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ITPA Nicola Ragge reviewed gene: ITPA: Rating: RED; Mode of pathogenicity: ; Publications: 26224535; Phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 HSF4 Nicola Ragge reviewed gene: HSF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 5, multiple types, 116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GSN Nicola Ragge reviewed gene: GSN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, Finnish type, 105120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GNPTG Nicola Ragge reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GJA8 Nicola Ragge reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 1, multiple types, 116200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GJA3 Nicola Ragge reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 14, multiple types, 601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GFER Nicola Ragge reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GCNT2 Nicola Ragge reviewed gene: GCNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 13 with adult i phenotype, 116700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GALT Nicola Ragge reviewed gene: GALT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia, 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GALK1 Nicola Ragge reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactokinase deficiency with cataracts, 230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FZD5 Nicola Ragge reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: Liu et al 2016 PMID: 26908622; Phenotypes: Coloboma, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FYCO1 Nicola Ragge reviewed gene: FYCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 18, autosomal recessive, 610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FTL Nicola Ragge reviewed gene: FTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FOXL2 Nicola Ragge reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FNBP4 Nicola Ragge reviewed gene: FNBP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FBN1 Nicola Ragge reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1301946, 8136837; Phenotypes: Ectopia lentis, familial, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan lipodystrophy syndrome, 129600, 154700, 604308, 608328, 616914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FAM126A Nicola Ragge reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FAM111A Nicola Ragge reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FADD Nicola Ragge reviewed gene: FADD: Rating: RED; Mode of pathogenicity: ; Publications: Gregory-Evans et al, 2007 PMID: 17656375 ; Phenotypes: Iris coloboma, retinal coloboma , None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 EYA1 Nicola Ragge reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract, Branchiootic syndrome 1, 113650, 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 EPHA2 Nicola Ragge reviewed gene: EPHA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 6, multiple types, 116600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 EPG5 Nicola Ragge reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Vici syndrome, 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DPYD Nicola Ragge reviewed gene: DPYD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DHX38 Nicola Ragge reviewed gene: DHX38: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DHCR7 Nicola Ragge reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DCN Nicola Ragge reviewed gene: DCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, congenital stromal, 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CYP51A1 Nicola Ragge reviewed gene: CYP51A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.76 CTDP1 Nicola Ragge reviewed gene: CTDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CRYGS Nicola Ragge reviewed gene: CRYGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 20, multiple types, 116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYGD Nicola Ragge reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 4, Multiple Types, 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYGC Nicola Ragge reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24281366, 29386872; Phenotypes: Cataract 2, multiple types (often with microcornea), 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYGB Nicola Ragge reviewed gene: CRYGB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 39, multiple types, autosomal dominant, 615188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYBB3 Nicola Ragge reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 22, autosomal recessive, 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 CRYBB2 Nicola Ragge reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 3, multiple types, 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYBB1 Nicola Ragge reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 17, multiple types, 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 CRYBA4 Nicola Ragge reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 16960806, 20577656 ; Phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYBA1 Nicola Ragge reviewed gene: CRYBA1: Rating: RED; Mode of pathogenicity: ; Publications: 26303524; Phenotypes: Cataract 10, multiple types, 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRYAB Nicola Ragge reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CATARACT 16, MULTIPLE TYPES, 613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 CRYAA Nicola Ragge reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17296897, 30340470 , 18302245 ; Phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRIM1 Nicola Ragge reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26681494, 25561690; Phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 COL8A2 Nicola Ragge reviewed gene: COL8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, 136800, 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 COL18A1 Nicola Ragge reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546652, 22399687; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CHST6 Nicola Ragge reviewed gene: CHST6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macular corneal dystrophy, 217800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CHRDL1 Nicola Ragge reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829; Phenotypes: Megalocornea 1, X-linked, 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 CHMP4B Nicola Ragge reviewed gene: CHMP4B: Rating: RED; Mode of pathogenicity: ; Publications: 17701905; Phenotypes: Cataract 31, multiple types, 605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CBS Nicola Ragge reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 7611293, 24169224, 21626167, 11774777; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BFSP2 Nicola Ragge reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 12, multiple types, 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 BFSP1 Nicola Ragge reviewed gene: BFSP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 33, 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 ALDH18A1 Nicola Ragge reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 21739576; Phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 AGPS Nicola Ragge reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 AGK Nicola Ragge reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sengers syndrome, Cataract 38, autosomal recessive, 212350, 614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 AGBL1 Nicola Ragge reviewed gene: AGBL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ADAMTSL4 Nicola Ragge reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20702823, 20141359, 25975359 ; Phenotypes: Ectopia lentis, isolated, autosomal recessive, Ectopia lentis et pupillae, 225100, 225200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ADAMTS18 Nicola Ragge reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 23818446; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ZNF513 Nicola Ragge reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 58, 613617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ZNF423 Nicola Ragge reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 19, Nephronophthisis 14, 614844, 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 XPC Nicola Ragge reviewed gene: XPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 XPA Nicola Ragge reviewed gene: XPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 WT1 Nicola Ragge reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 WHRN Nicola Ragge reviewed gene: WHRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2D, 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 WFS1 Nicola Ragge reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome, Wolfram-like syndrome, autosomal dominant, ?Cataract 41, 222300, 614296, 116400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 WDR36 Nicola Ragge reviewed gene: WDR36: Rating: RED; Mode of pathogenicity: ; Publications: 17353431, 18172102, 15677485; Phenotypes: Glaucoma 1, open angle, G, 609887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 WDPCP Nicola Ragge reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Bardet-Biedl syndrome 15, 615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 VCAN Nicola Ragge reviewed gene: VCAN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wagner syndrome 1, 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 VAX1 Nicola Ragge reviewed gene: VAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10601035, 22095910; Phenotypes: Microphthalmia, syndromic 11, 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 USH2A Nicola Ragge reviewed gene: USH2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 39, Usher syndrome type 2A, 613809, 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 USH1G Nicola Ragge reviewed gene: USH1G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1G, 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 USH1C Nicola Ragge reviewed gene: USH1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, autosomal recessive 18A, Usher syndrome type 1C, 602092, 276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 UNC119 Nicola Ragge reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy, Immunodeficiency 13, , 615518; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TYRP1 Nicola Ragge reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: 10644000; Phenotypes: Albinism, oculocutaneous, type III, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 203290, 612271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TYR Nicola Ragge reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: 28778995; Phenotypes: Albinism, oculocutaneous, type IA, Albinism, oculocutaneous, type IB, Waardenburg syndrome/albinism, digenic, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], {Melanoma, cutaneous malignant, susceptibility to, 8}, 203100, 606952, 103470, 601800, 601800, 601800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 TULP1 Nicola Ragge reviewed gene: TULP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TTC8 Nicola Ragge reviewed gene: TTC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 51, Bardet-Biedl syndrome 8, 613464, 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TTC21B Nicola Ragge reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TSPAN12 Nicola Ragge reviewed gene: TSPAN12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Exudative vitreoretinopathy 5, 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TRPM1 Nicola Ragge reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TRIM44 Nicola Ragge reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: ANIRIDIA 3, 617142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TRIM32 Nicola Ragge reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 11, Muscular dystrophy, limb-girdle, type 2H, 615988, 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TPP1 Nicola Ragge reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TP53BP2 Nicola Ragge reviewed gene: TP53BP2: Rating: RED; Mode of pathogenicity: ; Publications: 28150229, 27447114, ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.76 TOPORS Nicola Ragge reviewed gene: TOPORS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 31, 609923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TMEM67 Nicola Ragge reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19058225, 30055837 ; Phenotypes: COACH syndrome, Joubert syndrome 6, Meckel syndrome 3, Nephronophthisis 11, {Bardet-Biedl syndrome 14, modifer of}, 216360, 610688, 607361, 613550, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM237 Nicola Ragge reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152675, 30055837 ; Phenotypes: Joubert syndrome 14, 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM231 Nicola Ragge reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: ; Publications: 23012439, 23349226; Phenotypes: Joubert syndrome 20, Meckel syndrome 11, 614970, 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM216 Nicola Ragge reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: 20512146, 30055837; Phenotypes: Joubert syndrome 2, Meckel syndrome 2, 608091, 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM138 Nicola Ragge reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: ; Publications: 22282472; Phenotypes: Joubert syndrome 16, 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM126A Nicola Ragge reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy, 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TIMP3 Nicola Ragge reviewed gene: TIMP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sorsby fundus dystrophy, 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TIMM8A Nicola Ragge reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 TFAP2A Nicola Ragge reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423521, 19685247 ; Phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 TENM3 Nicola Ragge reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22766609, 27103084, 24859618, 29753094, 30513139; Phenotypes: Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TCTN3 Nicola Ragge reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: 25118024, 29725084; Phenotypes: Joubert syndrome 18, Orofaciodigital syndrome IV, 614815, 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TCTN2 Nicola Ragge reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: 21565611, 25118024; Phenotypes: Meckel syndrome 8, Joubert syndrome 24, 613885, 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TCTN1 Nicola Ragge reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: 21725307, 22693042; Phenotypes: Joubert syndrome 13, 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SPINT2 Nicola Ragge reviewed gene: SPINT2: Rating: RED; Mode of pathogenicity: ; Publications: 29575628, 24142340, ; Phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SPATA7 Nicola Ragge reviewed gene: SPATA7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 3, Retinitis pigmentosa, juvenile, autosomal recessive, 604232, 604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SNRNP200 Nicola Ragge reviewed gene: SNRNP200: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 33, 610359; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SLC45A2 Nicola Ragge reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes] , 606574, 227240, 227240, 227240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC24A5 Nicola Ragge reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SLC24A1 Nicola Ragge reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SIX3 Nicola Ragge reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454, 10369266, 21940735; Phenotypes: Holoprosencephaly 2, , 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SEMA4A Nicola Ragge reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 35, Cone-rod dystrophy 10, 610282, 610283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 SDCCAG8 Nicola Ragge reviewed gene: SDCCAG8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, 613615, 615993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SALL2 Nicola Ragge reviewed gene: SALL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24412933; Phenotypes: Coloboma, ocular, autosomal recessive, 216820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SAG Nicola Ragge reviewed gene: SAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RS1 Nicola Ragge reviewed gene: RS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoschisis, 312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 RPGRIP1 Nicola Ragge reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 13, Leber congenital amaurosis 6, 608194, 613826; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RPGR Nicola Ragge reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 3, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Cone-rod dystrophy, X-linked, 1 , 300029, 300455, 300834, 304020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 RPE65 Nicola Ragge reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 2, 204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RP9 Nicola Ragge reviewed gene: RP9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ?Retinitis pigmentosa 9, 180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 RP2 Nicola Ragge reviewed gene: RP2: Rating: RED; Mode of pathogenicity: ; Publications: 21738648; Phenotypes: Retinitis pigmentosa 2, 312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 RP1 Nicola Ragge reviewed gene: RP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 1, 180100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ROM1 Nicola Ragge reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 7, digenic, 608133; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 RLBP1 Nicola Ragge reviewed gene: RLBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bothnia retinal dystrophy, Newfoundland rod-cone dystrophy, Fundus albipunctatus, 607475, 607476, 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 RIMS1 Nicola Ragge reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28677725; Phenotypes: Cone-rod dystrophy 7, 603649; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 RHO Nicola Ragge reviewed gene: RHO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, Night blindness, congenital stationary, autosomal dominant 1, , 613731, 610445, 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 RGS9BP Nicola Ragge reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RGS9 Nicola Ragge reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RGR Nicola Ragge reviewed gene: RGR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 44, 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 RDH5 Nicola Ragge reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fundus albipunctatus, 136880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 RDH12 Nicola Ragge reviewed gene: RDH12: Rating: RED; Mode of pathogenicity: ; Publications: 25148430, 22065924; Phenotypes: Leber congenital amaurosis 13, 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RD3 Nicola Ragge reviewed gene: RD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 12, 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RBP3 Nicola Ragge reviewed gene: RBP3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ?Retinitis pigmentosa 66, 615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RAX2 Nicola Ragge reviewed gene: RAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 11, Macular degeneration, age-related, 6, 610381, 613757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRPH2 Nicola Ragge reviewed gene: PRPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis punctata albescens, Macular dystrophy, patterned, 1, Leber congenital amaurosis 18, Macular dystrophy, vitelliform, 3, Choriodal dystrophy, central areolar 2 , 136880, 169150, 608133, 608161, 613105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 PRPF8 Nicola Ragge reviewed gene: PRPF8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 13, 600059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRPF6 Nicola Ragge reviewed gene: PRPF6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 60, 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRPF31 Nicola Ragge reviewed gene: PRPF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 11, 600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRPF3 Nicola Ragge reviewed gene: PRPF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 18, 601414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PROM1 Nicola Ragge reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Stargardt disease 4, Macular dystrophy, retinal, 2, Retinitis pigmentosa 41, Cone-rod dystrophy 12, 603786, 608051, 612095, 612657; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 PRCD Nicola Ragge reviewed gene: PRCD: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 36, 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PPT1 Nicola Ragge reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 POLH Nicola Ragge reviewed gene: POLH: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PLA2G5 Nicola Ragge reviewed gene: PLA2G5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: [Fleck retina, familial benign], 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PITX3 Nicola Ragge reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20033184, 29405783, 9620774; Phenotypes: Anterior segment mesenchymal dysgenesis, Cataract 11, multiple types, 107250, 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PITPNM3 Nicola Ragge reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone-rod dystrophy 5, 600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PHYH Nicola Ragge reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Refsum disease, 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PEX7 Nicola Ragge reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, Peroxisome biogenesis disorder 9B, 215100, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PDZD7 Nicola Ragge reviewed gene: PDZD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, Retinal disease in Usher syndrome type IIA, modifier of, 605472, 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6H Nicola Ragge reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia 6, 610024; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6G Nicola Ragge reviewed gene: PDE6G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 57, 613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6C Nicola Ragge reviewed gene: PDE6C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone dystrophy 4, 613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6B Nicola Ragge reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 PDE6A Nicola Ragge reviewed gene: PDE6A: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 43, 613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PCDH15 Nicola Ragge reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Usher syndrome, type 1D/F digenic, Usher syndrome, type 1F, Deafness, autosomal recessive 23, 601067, 602083, 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 OPTN Nicola Ragge reviewed gene: OPTN: Rating: RED; Mode of pathogenicity: ; Publications: 11834836; Phenotypes: Glaucoma 1, open angle, E, 137760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 OPA3 Nicola Ragge reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Optic atrophy 3 with cataract, 165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 OPA1 Nicola Ragge reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy plus syndrome, Optic atrophy 1, Behr syndrome, Glaucoma, normal tension, susceptibility to, , 125250, 165500, 210000, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 OFD1 Nicola Ragge reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28173652; Phenotypes: Joubert syndrome 10, ?Retinitis pigmentosa 23, 300804, 300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 OCA2 Nicola Ragge reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, brown oculocutaneous, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 203200, 203200, 227220, 227220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 OAT Nicola Ragge reviewed gene: OAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 NYX Nicola Ragge reviewed gene: NYX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, 310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 NTF4 Nicola Ragge reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, O, 613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 NRL Nicola Ragge reviewed gene: NRL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 27, 613750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 NR2E3 Nicola Ragge reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 37, Enhanced S-cone syndrome, 611131, 268100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 NPHP4 Nicola Ragge reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 4, Senior-Loken syndrome 4, 606966, 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 NPHP3 Nicola Ragge reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 NPHP1 Nicola Ragge reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 NDP Nicola Ragge reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26130484, 29617172, 29321361, 17334993; Phenotypes: Exudative vitreoretinopathy 2, X-linked, Norrie disease, 305390, 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 NAA10 Nicola Ragge reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: other - please provide details in the comments; Publications: 24431331, 30842225; Phenotypes: Microphthalmia, syndromic 1, 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 MYO7A Nicola Ragge reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1B, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, 276900, 601317; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 MTTP Nicola Ragge reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MPLKIP Nicola Ragge reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: 21959366; Phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MKS1 Nicola Ragge reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: ; Publications: 23454480; Phenotypes: Bardet-Biedl syndrome 13, Meckel syndrome 1, 615990, 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MKKS Nicola Ragge reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MIR204 Nicola Ragge reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: 26056285; Phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MFSD8 Nicola Ragge reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 610951, 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MFN2 Nicola Ragge reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MERTK Nicola Ragge reviewed gene: MERTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 38, 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MAK Nicola Ragge reviewed gene: MAK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 62, 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LZTFL1 Nicola Ragge reviewed gene: LZTFL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 17, 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LRP5 Nicola Ragge reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29131652, 28111184, 20034086; Phenotypes: Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, Osteopetrosis, autosomal dominant 1, van Buchem disease, type 2, 259770, 601813, 607634, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 LRMDA Nicola Ragge reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LRIT3 Nicola Ragge reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LRAT Nicola Ragge reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 14, 613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 LCA5 Nicola Ragge reviewed gene: LCA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 5, 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KLHL7 Nicola Ragge reviewed gene: KLHL7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 42, 612943; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 KIF7 Nicola Ragge reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: 21633164; Phenotypes: Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KCTD7 Nicola Ragge reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KCNV2 Nicola Ragge reviewed gene: KCNV2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 3B, 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 KCNJ13 Nicola Ragge reviewed gene: KCNJ13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 16, Snowflake vitreoretinal degeneration, 614186, 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 IQCB1 Nicola Ragge reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000)., 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 INVS Nicola Ragge reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 2, infantile, 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 INPP5E Nicola Ragge reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 23386033, 30055837, 23022135; Phenotypes: Joubert syndrome 1, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 213300, 610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 IMPG2 Nicola Ragge reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 56, Macular dystrophy, vitelliform, 5, 613581, 616152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 IMPDH1 Nicola Ragge reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 10, Leber congenital amaurosis 11, 180105, 613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 IDH3B Nicola Ragge reviewed gene: IDH3B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 HMGB3 Nicola Ragge reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24993872, ; Phenotypes: ?Microphthalmia, syndromic 13, 300915; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 HDAC6 Nicola Ragge reviewed gene: HDAC6: Rating: RED; Mode of pathogenicity: other - please provide details in the comments; Publications: 20181727; Phenotypes: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 HARS Nicola Ragge reviewed gene: HARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome type 3B, Charcot-Marie-Tooth disease, axonal, type 2W, 614504, 616625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 GUCY2D Nicola Ragge reviewed gene: GUCY2D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 1, Cone-rod dystrophy 6, 204000, 601777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 GUCA1B Nicola Ragge reviewed gene: GUCA1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 48, 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GUCA1A Nicola Ragge reviewed gene: GUCA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone dystrophy-3, 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GTF2H5 Nicola Ragge reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GRN Nicola Ragge reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GRM6 Nicola Ragge reviewed gene: GRM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GPR179 Nicola Ragge reviewed gene: GPR179: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GPR143 Nicola Ragge reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nystagmus 6, congenital, X-linked, Ocular albinism, type I, Nettleship-Falls type, 300814, 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 GNAT2 Nicola Ragge reviewed gene: GNAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia-4, 613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GNAT1 Nicola Ragge reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, ?Night blindness, congenital stationary, type 1G, 610444, 616389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 GDF6 Nicola Ragge reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), Microphthalmia with coloboma6, digenic (with GDF3), Microphthalmia, isolated 4 , 118100 , 613703 , 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 GDF3 Nicola Ragge reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: other - please provide details in the comments; Publications: 19864492; Phenotypes: Klippel-Feil Syndrome3, Microphthalmia with coloboma 6, Microphthalmia, isolated 7, 613702, 613703, 613704; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FZD4 Nicola Ragge reviewed gene: FZD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413837, 30882657; Phenotypes: Exudative vitreoretinopathy 1, 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FSCN2 Nicola Ragge reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 30, 607921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FLVCR1 Nicola Ragge reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, 609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FAM161A Nicola Ragge reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 EYS Nicola Ragge reviewed gene: EYS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 25, 602772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC8 Nicola Ragge reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, type A, 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC6 Nicola Ragge reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, Macular degeneration, age-related, susceptibility to 5, 214150, 613761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC5 Nicola Ragge reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), Cerebrooculofacioskeletal syndrome 3, 278780, 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC4 Nicola Ragge reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC3 Nicola Ragge reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC2 Nicola Ragge reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ERCC1 Nicola Ragge reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17273966; Phenotypes: Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ELP4 Nicola Ragge reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376, 29217025; Phenotypes: ANIRIDIA 2, 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ELOVL4 Nicola Ragge reviewed gene: ELOVL4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stargardt disease 3, 600110; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 EFEMP1 Nicola Ragge reviewed gene: EFEMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Doyne honeycomb degeneration of retina, 126600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 DHDDS Nicola Ragge reviewed gene: DHDDS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 59, 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DDB2 Nicola Ragge reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 DDB1 Nicola Ragge reviewed gene: DDB1: Rating: RED; Mode of pathogenicity: ; Publications: 17129780; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.76 CYP4V2 Nicola Ragge reviewed gene: CYP4V2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bietti crystalline corneoretinal dystrophy, 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CYP27A1 Nicola Ragge reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBROTENDINOUS XANTHOMATOSIS, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CTSD Nicola Ragge reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CRX Nicola Ragge reviewed gene: CRX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod retinal dystrophy-2, Leber congenital amaurosis 7, 120970, 613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CRB1 Nicola Ragge reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21484995, 23077403; Phenotypes: Leber congenital amaurosis 8, Retinitis pigmentosa-12, autosomal recessive, Pigmented paravenous chorioretinal atrophy, 613835, 600105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 COL9A2 Nicola Ragge reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: STICKLER SYNDROME, TYPE V, 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 COL9A1 Nicola Ragge reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type IV, 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 COL2A1 Nicola Ragge reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18541977, 17347327; Phenotypes: Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, SED congenita, Stickler sydrome, type I, nonsyndromic ocular, , , 108300, 156550, 609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 COL11A2 Nicola Ragge reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 COL11A1 Nicola Ragge reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type II, Marshall syndrome, 604841, 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CNNM4 Nicola Ragge reviewed gene: CNNM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 27419834; Phenotypes: Jalili syndrome, 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CNGB3 Nicola Ragge reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macular degeneration, juvenile, Achromatopsia-3, 248200, 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CNGB1 Nicola Ragge reviewed gene: CNGB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 45, 613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CNGA3 Nicola Ragge reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: ; Publications: 24504161; Phenotypes: Achromatopsia-2, 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CNGA1 Nicola Ragge reviewed gene: CNGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 49, 613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CLRN1 Nicola Ragge reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 3A, Retinitis pigmentosa 61, 276902, 614180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CLN8 Nicola Ragge reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CLN6 Nicola Ragge reviewed gene: CLN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CLN5 Nicola Ragge reviewed gene: CLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CLN3 Nicola Ragge reviewed gene: CLN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CIB2 Nicola Ragge reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IJ, 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CHM Nicola Ragge reviewed gene: CHM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Choroideremia, 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 CERKL Nicola Ragge reviewed gene: CERKL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 26, 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CEP41 Nicola Ragge reviewed gene: CEP41: Rating: RED; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: Joubert syndrome 15, 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CEP290 Nicola Ragge reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 30055837, 22355252; Phenotypes: Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome 4, Leber congenital amaurosis 10, ?Bardet-Biedl syndrome 14, 610188, 610189, 611134, 611755, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CDHR1 Nicola Ragge reviewed gene: CDHR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 15, 613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CDH3 Nicola Ragge reviewed gene: CDH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Hypotrichosis, congenital, with juvenile macular dystrophy, 225280, 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CDH23 Nicola Ragge reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1D, 601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CACNA2D4 Nicola Ragge reviewed gene: CACNA2D4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 4, 610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CACNA1F Nicola Ragge reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2A, X-linked, Cone-rod dystropy, X-linked, 3, Aland Island eye disease, 300071, 300476, 300600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 CABP4 Nicola Ragge reviewed gene: CABP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CA4 Nicola Ragge reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 17, 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 C8orf37 Nicola Ragge reviewed gene: C8orf37: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 16, 614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 C5orf42 Nicola Ragge reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: ; Publications: 24178751; Phenotypes: Joubert syndrome 17, 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 C2orf71 Nicola Ragge reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 54, 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 C1QTNF5 Nicola Ragge reviewed gene: C1QTNF5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal degeneration, late-onset, autosomal dominant, 605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 BMPR1A Nicola Ragge reviewed gene: BMPR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29522511; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 BMP7 Nicola Ragge reviewed gene: BMP7: Rating: AMBER; Mode of pathogenicity: other - please provide details in the comments; Publications: 20506283, 7590254; Phenotypes: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 BEST1 Nicola Ragge reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15452077, 21473666 ; Phenotypes: Vitelliform Macular degeneration 2, Microcornea, rod-cone dystrophy, cataract, and posterior, staphyloma, Bestrophinopathy, autosomal recessive, Retinitis pigmentosa, concentric , 153700, 193220, 611809, 613194; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 BBS9 Nicola Ragge reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome9, 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS7 Nicola Ragge reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome7, 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS5 Nicola Ragge reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome5, 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS4 Nicola Ragge reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome4, 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS2 Nicola Ragge reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome2, Retinitis pigmentosa 74, 615981, 616562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS12 Nicola Ragge reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome12, 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS10 Nicola Ragge reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome10, 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BBS1 Nicola Ragge reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome1, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 B3GLCT Nicola Ragge reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909395; Phenotypes: Peters-plus syndrome, 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ATP13A2 Nicola Ragge reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: KUFOR-RAKEB SYNDROME, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 606693, 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ATOH7 Nicola Ragge reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 1838, 8779, 22068589, 11493566 ; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ASB10 Nicola Ragge reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, F, 603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ARL6 Nicola Ragge reviewed gene: ARL6: Rating: RED; Mode of pathogenicity: ; Publications: 19097054; Phenotypes: Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, {Bardet-Biedl syndrome 1, modifier of}, 613575, 600151, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ARL13B Nicola Ragge reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: ; Publications: 18674751, 25138100; Phenotypes: Joubert syndrome 8, 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ALMS1 Nicola Ragge reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alstrom syndrome, 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 AIPL1 Nicola Ragge reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25148430; Phenotypes: Cone-rod dystrophy, Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile, 604393, 604393, 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 AHI1 Nicola Ragge reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 3, 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ADGRV1 Nicola Ragge reviewed gene: ADGRV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2C, 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ADAM9 Nicola Ragge reviewed gene: ADAM9: Rating: RED; Mode of pathogenicity: ; Publications: 25091951; Phenotypes: Cone-rod dystrophy 9, 612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ABHD12 Nicola Ragge reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract , 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ABCB6 Nicola Ragge reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7, 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ABCA4 Nicola Ragge reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 3, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, Stargardt disease 1, {Macular degeneration, age-related, 2}, 604116, 248200, 248200, 601718, 248200, 153800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 TUBGCP4 Nicola Ragge reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SBF2 Nicola Ragge reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RBP4 Nicola Ragge reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888420, 27892788, 25910211 ; Phenotypes: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PIGL Nicola Ragge reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MAF Nicola Ragge reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12642301, 17982426, 16470690; Phenotypes: Cataract 21, multiple types 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 LRP2 Nicola Ragge reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 8266995, 18553518; Phenotypes: Donnai-Barrow syndrome, 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 IGBP1 Nicola Ragge reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.76 HMX1 Nicola Ragge reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 21417677, 25574057, 29140751; Phenotypes: Oculoauricular syndrome 612109; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 GJA1 Nicola Ragge reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 21273537, 25976645, 15637728, 24508941, 30628995; Phenotypes: Oculodentodigital dysplasia, open angle glaucoma (OAG) and microcornea; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 DDX58 Nicola Ragge reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: ; Publications: 25620203, 30574673; Phenotypes: Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 YAP1 Nicola Ragge reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24462371, 27267789, 28801591 ; Phenotypes: isolated ocular coloboma, Coloboma, ocular, 120433, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 VSX2 Nicola Ragge reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10932181, 20414678 ; Phenotypes: Microphthalmia with coloboma 3, 610092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 TMEM98 Nicola Ragge reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26392740, 24852644; Phenotypes: NNO4, Nanophthalmos 4, 615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 TBC1D20 Nicola Ragge reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 STRA6 Nicola Ragge reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273977, 24859618; Phenotypes: Syndromic Microphthalmia, Recessive, Microphthalmia, isolated, with coloboma 8, 601186, Microphthalmia, syndromic 9, 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SOX2 Nicola Ragge reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12612584, 24859618; Phenotypes: Microphthalmia, syndromic 3 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 SMOC1 Nicola Ragge reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 SMO Nicola Ragge reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 SIX6 Nicola Ragge reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23167593, 24702266, 29450879, 15266624; Phenotypes: Microphthalmia with cataract 2, 212550, Optic disc anomalies with retinal and/or macular dystrophy, 212550, Anophthalmia/Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change
Structural eye disease v0.76 SHH Nicola Ragge reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 20425842; Phenotypes: Holoprosencephaly-3, 142945, Microphthalmia with coloboma 5, 611638, Single median maxillary central incisor, 147250, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 SALL4 Nicola Ragge reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12843316, 6426304; Phenotypes: Duane-radial ray syndrome, 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 RPGRIP1L Nicola Ragge reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RAX Nicola Ragge reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662654, 18783408, 24033328; Phenotypes: Anophthalmia/Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RARB Nicola Ragge reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 12, 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 RAB3GAP2 Nicola Ragge reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23420520; Phenotypes: Martsolf syndrome, 212720Warburg micro syndrome 2, 614225, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RAB3GAP1 Nicola Ragge reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 1, 600118, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 RAB18 Nicola Ragge reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 3, 614222, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PUF60 Nicola Ragge reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19464398, 24140112, 27804958, 28327570; Phenotypes: Verheij syndrome, 615583, VRJS, ocular abnormalities, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PRSS56 Nicola Ragge reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 6, 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 PORCN Nicola Ragge reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030, 24859618; Phenotypes: Focal dermal hypoplasia 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 PITX2 Nicola Ragge reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9685346, 9618168, 10051017, 8944018, 18723525, 11487566; Phenotypes: Anterior segment dysgenesis 4 137600, Axenfeld-Rieger syndrome, type 1 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 PAX6 Nicola Ragge reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12552561, 11826019, 11553050, 17406642, 7666404, 17595013, 8111379, 7550230, 7951315, 9931324, 1302030, 19876904, 17148041; Phenotypes: Anophthalmia, Gillespie syndrome, 206700, Cataract with late-onset corneal dystrohpy, 106210, ?Morning glory disc anomaly, 120430, Aniridia, 106210, Peters anomaly, 604229, Coloboma of optic nerve, 120430, Aniridia 106210, Foveal hypoplasia 1, 136520, Keratitis, 148190, Optic nerve hypoplasia, 165550, Coloboma, ocular, 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 PAX2 Nicola Ragge reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 8589702, 22213154, 10533062; Phenotypes: Papillorenal syndrome 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 OTX2 Nicola Ragge reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15846561, 18781617,24859618; Phenotypes: OTX2-Related Syndromic Microphthalmia, severe, bilateral cases, Microphthalmia, syndromic 5, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MYOC Nicola Ragge reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9535666, 12522550, 9345106, 9328473, 9005853, 9697688, 10330365; Phenotypes: Glaucoma 1A, primary open angle, 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 MFRP Nicola Ragge reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 5, 611040, Isolated Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 MAB21L2 Nicola Ragge reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24906020, 25719200; Phenotypes: Microphthalmia, syndromic 14, 615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.76 LTBP2 Nicola Ragge reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19656777, 19361779, 21081970, 20179738; Phenotypes: Glaucoma 3, primary congenital, D 613086, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 HCCS Nicola Ragge reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964, 24859618; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801, Microphthalmia, syndromic 7, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 GRIP1 Nicola Ragge reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22510445; Phenotypes: FRASER SYNDROME 3, 617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FREM2 Nicola Ragge reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507; Phenotypes: FRASER SYNDROME 2, 617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FREM1 Nicola Ragge reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21507892, ; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME, 248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FRAS1 Nicola Ragge reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12766769; Phenotypes: FRASER SYNDROME 1, 219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FOXE3 Nicola Ragge reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 11159941, 21150893, 27218149, 16826526, 20361012, 24859618, 19708017; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes 610256, Anterior segment mesenchymal dysgenesis 107250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 FOXD3 Nicola Ragge reviewed gene: FOXD3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22815627; Phenotypes: aniridia, Peters anomaly, Anterior segment dysgenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 FOXC1 Nicola Ragge reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9620769, 10713890, 12036988, 17210863, 12614756, 11007653; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes 601631, Axenfeld-Rieger syndrome, type 3 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CYP1B1 Nicola Ragge reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9463332, 9097971, 9497261, 12372064; Phenotypes: Glaucoma 3, Primary Congenital, A, GLC3A, 231300, Peters anomaly, 604229, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, primary congenital glaucoma, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 COL4A1 Nicola Ragge reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24628545, 30181649; Phenotypes: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, 607595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 CLDN19 Nicola Ragge reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033971, 500385; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 CHD7 Nicola Ragge reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 16400610; Phenotypes: CHARGE syndrome, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 CC2D2A Nicola Ragge reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 C12orf57 Nicola Ragge reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453665, 24859618; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 BMP4 Nicola Ragge reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: 18252212, 2427285; Phenotypes: Orofacial cleft 11, 600625, BMP4-Related Syndromic Microphthalmia, Microphthalmia, syndromic 6, 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.76 BCOR Nicola Ragge reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15004558, 17517692, 29974297; Phenotypes: Microphthalmia, syndromic 2, 300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.76 ALDH1A3 Nicola Ragge reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859610, 23591992; Phenotypes: Microphthalmia, isolated 8 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ADAMTS17 Nicola Ragge reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19836009; Phenotypes: Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ADAMTS10 Nicola Ragge reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18567016, 19836009, 15368195; Phenotypes: Weill-Marchesani syndrome 1, recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.76 ACTG1 Nicola Ragge reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22366783; Phenotypes: Baraitser-Winter syndrome 2, 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.76 ACTB Nicola Ragge reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 2505231; Phenotypes: Baraitser-Winter syndrome 1, 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.75 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Structural eye disease v0.75 C5orf42 Louise Daugherty commented on gene: C5orf42
Structural eye disease v0.75 C2orf71 Louise Daugherty commented on gene: C2orf71
Structural eye disease v0.75 C2orf71 Louise Daugherty Tag new-gene-name tag was added to gene: C2orf71.
Structural eye disease v0.75 VAX1 Ivone Leong commented on gene: VAX1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 SIX3 Ivone Leong commented on gene: SIX3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 SALL2 Ivone Leong commented on gene: SALL2: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 OFD1 Ivone Leong commented on gene: OFD1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 MIR204 Ivone Leong commented on gene: MIR204: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 HMGB3 Ivone Leong commented on gene: HMGB3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 GDF3 Ivone Leong commented on gene: GDF3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 FZD4 Ivone Leong commented on gene: FZD4: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 ERCC1 Ivone Leong commented on gene: ERCC1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 CRB1 Ivone Leong commented on gene: CRB1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 COL2A1 Ivone Leong commented on gene: COL2A1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 CNNM4 Ivone Leong commented on gene: CNNM4: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 BMPR1A Ivone Leong commented on gene: BMPR1A: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 BMP7 Ivone Leong commented on gene: BMP7: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 AIPL1 Ivone Leong commented on gene: AIPL1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.74 VAX1 Ivone Leong Source Expert Review Amber was added to VAX1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 SIX3 Ivone Leong Source Expert Review Amber was added to SIX3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 SALL2 Ivone Leong Source Expert Review Amber was added to SALL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 OFD1 Ivone Leong Source Expert Review Amber was added to OFD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 MIR204 Ivone Leong Source Expert Review Amber was added to MIR204.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 HMGB3 Ivone Leong Source Expert Review Amber was added to HMGB3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 GDF3 Ivone Leong Source Expert Review Amber was added to GDF3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 FZD4 Ivone Leong Source Expert Review Amber was added to FZD4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 ERCC1 Ivone Leong Source Expert Review Amber was added to ERCC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 CRB1 Ivone Leong Source Expert Review Amber was added to CRB1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 COL2A1 Ivone Leong Source Expert Review Amber was added to COL2A1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 CNNM4 Ivone Leong Source Expert Review Amber was added to CNNM4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 BMPR1A Ivone Leong Source Expert Review Amber was added to BMPR1A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 BMP7 Ivone Leong Source Expert Review Amber was added to BMP7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 AIPL1 Ivone Leong Source Expert Review Amber was added to AIPL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.73 LRP5 Ivone Leong Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.72 ATOH7 Ivone Leong Classified gene: ATOH7 as Green List (high evidence)
Structural eye disease v0.72 ATOH7 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as there is sufficient evidence.
Structural eye disease v0.72 ATOH7 Ivone Leong Gene: atoh7 has been classified as Green List (High Evidence).
Structural eye disease v0.71 DDX58 Ivone Leong edited their review of gene: DDX58: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 25620203, 30574673
Structural eye disease v0.71 GJA1 Ivone Leong edited their review of gene: GJA1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 21273537, 25976645, 15637728, 24508941, 30628995
Structural eye disease v0.71 HMX1 Ivone Leong edited their review of gene: HMX1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 18423520, 21417677, 25574057, 29140751
Structural eye disease v0.71 LRP2 Ivone Leong edited their review of gene: LRP2: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 17632512, 8266995, 18553518
Structural eye disease v0.71 MAF Ivone Leong edited their review of gene: MAF: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 12642301, 17982426
Structural eye disease v0.71 PIGL Ivone Leong commented on gene: PIGL: Promoted from amber to green as there is sufficient evidence.
Structural eye disease v0.71 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: Promoted from amber to green as there is sufficient evidence.
Structural eye disease v0.71 ABCB6 Ivone Leong commented on gene: ABCB6: Promoted from red to green as there is sufficient evidence.
Structural eye disease v0.71 ABCB6 Ivone Leong Classified gene: ABCB6 as Green List (high evidence)
Structural eye disease v0.71 ABCB6 Ivone Leong Gene: abcb6 has been classified as Green List (High Evidence).
Structural eye disease v0.70 TUBGCP4 Ivone Leong Classified gene: TUBGCP4 as Green List (high evidence)
Structural eye disease v0.70 TUBGCP4 Ivone Leong Gene: tubgcp4 has been classified as Green List (High Evidence).
Structural eye disease v0.69 TUBGCP4 Ivone Leong Classified gene: TUBGCP4 as Green List (high evidence)
Structural eye disease v0.69 TUBGCP4 Ivone Leong Gene: tubgcp4 has been classified as Green List (High Evidence).
Structural eye disease v0.68 GJA1 Ivone Leong Classified gene: GJA1 as Green List (high evidence)
Structural eye disease v0.68 GJA1 Ivone Leong Gene: gja1 has been classified as Green List (High Evidence).
Structural eye disease v0.67 SIX6 Ivone Leong Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.66 KMT2D Ivone Leong Publications for gene: KMT2D were set to
Structural eye disease v0.65 KIAA1109 Ivone Leong Publications for gene: KIAA1109 were set to 617822; 29290337
Structural eye disease v0.64 KMT2D Ivone Leong Classified gene: KMT2D as Green List (high evidence)
Structural eye disease v0.64 KMT2D Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.64 KMT2D Ivone Leong Gene: kmt2d has been classified as Green List (High Evidence).
Structural eye disease v0.63 SBF2 Ivone Leong Classified gene: SBF2 as Green List (high evidence)
Structural eye disease v0.63 SBF2 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.63 SBF2 Ivone Leong Gene: sbf2 has been classified as Green List (High Evidence).
Structural eye disease v0.62 RBP4 Ivone Leong Classified gene: RBP4 as Green List (high evidence)
Structural eye disease v0.62 RBP4 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.62 RBP4 Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence).
Structural eye disease v0.61 RBP4 Ivone Leong Mode of inheritance for gene: RBP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.60 BMP4 Ivone Leong edited their review of gene: BMP4: Changed rating: GREEN
Structural eye disease v0.60 BMP4 Ivone Leong edited their review of gene: BMP4: Added comment: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.; Changed publications: 18252212, 2427285
Structural eye disease v0.60 CSPP1 Mariya Moosajee reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 21; Mode of inheritance:
Structural eye disease v0.60 WNT3 Mariya Moosajee reviewed gene: WNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tetraamelia Syndrome 1, TETAMS1; Mode of inheritance:
Structural eye disease v0.60 TUBB Mariya Moosajee reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2; Mode of inheritance:
Structural eye disease v0.60 SNX3 Mariya Moosajee reviewed gene: SNX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, Syndromic 8,MCOPS8; Mode of inheritance:
Structural eye disease v0.60 SMO Mariya Moosajee reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Curry-Jones Syndrome, CRJS; Mode of inheritance:
Structural eye disease v0.60 SMG9 Mariya Moosajee reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Heart and Brain Malformation Syndrome: HBMS; Mode of inheritance:
Structural eye disease v0.60 SLC25A24 Mariya Moosajee reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin-Chaudhry-Moss Syndrome, GCMS; Mode of inheritance:
Structural eye disease v0.60 TMEM5 Mariya Moosajee reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10; Mode of inheritance:
Structural eye disease v0.60 RIPK4 Mariya Moosajee reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Popliteal Pterygium Syndrome; Mode of inheritance:
Structural eye disease v0.60 RERE Mariya Moosajee reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH; Mode of inheritance:
Structural eye disease v0.60 POMT2 Mariya Moosajee reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 2, MDDGA2; Mode of inheritance:
Structural eye disease v0.60 POMT1 Mariya Moosajee reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, MDDGA1; Mode of inheritance:
Structural eye disease v0.60 POMGNT2 Mariya Moosajee reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8; Mode of inheritance:
Structural eye disease v0.60 POMGNT1 Mariya Moosajee reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3; Mode of inheritance:
Structural eye disease v0.60 FANCL Mariya Moosajee reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group L, FANCL; Mode of inheritance:
Structural eye disease v0.60 OLFM2 Mariya Moosajee reviewed gene: OLFM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bilateral microphthalmia, short stature and facial dysmorphism ; Mode of inheritance:
Structural eye disease v0.60 NDUFB11 Mariya Moosajee reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3; Mode of inheritance:
Structural eye disease v0.60 MITF Mariya Moosajee reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMMAD Syndrome, Waardenburg syndrome, type 2a, WS2A; Mode of inheritance:
Structural eye disease v0.60 MAPRE2 Mariya Moosajee reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2; Mode of inheritance:
Structural eye disease v0.60 KIF11 Mariya Moosajee reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR; Mode of inheritance:
Structural eye disease v0.60 KDM6A Mariya Moosajee reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki Syndrome 2, KABUK2; Mode of inheritance:
Structural eye disease v0.60 ISPD Mariya Moosajee reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 7, MDDGA7; Mode of inheritance:
Structural eye disease v0.60 IKBKG Mariya Moosajee reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Incontinentia pigmenti, IP; Mode of inheritance:
Structural eye disease v0.60 GLI2 Mariya Moosajee reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 9, HPE9; Mode of inheritance:
Structural eye disease v0.60 FKTN Mariya Moosajee reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4; Mode of inheritance:
Structural eye disease v0.60 FKRP Mariya Moosajee reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 5, MDDGA5; Mode of inheritance:
Structural eye disease v0.60 FANCI Mariya Moosajee reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group I, FANCI; Mode of inheritance:
Structural eye disease v0.60 FANCE Mariya Moosajee reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group E, FANCE; Mode of inheritance:
Structural eye disease v0.60 FANCD2 Mariya Moosajee reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group D2, FANCD2; Mode of inheritance:
Structural eye disease v0.60 FANCA Mariya Moosajee reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group A, FA; Mode of inheritance:
Structural eye disease v0.60 ESCO2 Mariya Moosajee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SC Phocomelia Syndrome; Mode of inheritance:
Structural eye disease v0.60 DOCK6 Mariya Moosajee reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adams-Oliver Syndrome 2, AOS2; Mode of inheritance:
Structural eye disease v0.60 DAG1 Mariya Moosajee reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystroglycanopathy, Type A, 9, MDDGA9; Mode of inheritance:
Structural eye disease v0.60 C5orf42 Mariya Moosajee reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oriofaciodigital Syndrome VI, OFD6 ; Mode of inheritance:
Structural eye disease v0.60 COX7B Mariya Moosajee reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2; Mode of inheritance:
Structural eye disease v0.60 B3GALNT2 Mariya Moosajee reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 11, ; Mode of inheritance:
Structural eye disease v0.60 ALX3 Mariya Moosajee reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal Dysplasia 1, FND1; Mode of inheritance:
Structural eye disease v0.60 ALX1 Mariya Moosajee reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal Dysplasia 3, FND3; Mode of inheritance:
Structural eye disease v0.59 TMEM5 Ivone Leong commented on gene: TMEM5
Structural eye disease v0.59 TMEM5 Ivone Leong Tag new-gene-name tag was added to gene: TMEM5.
Structural eye disease v0.59 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636
Structural eye disease v0.59 WNT3 Ivone Leong gene: WNT3 was added
gene: WNT3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetraamelia Syndrome 1, TETAMS1, 273395
Structural eye disease v0.59 TUBB Ivone Leong gene: TUBB was added
gene: TUBB was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610
Structural eye disease v0.59 SNX3 Ivone Leong gene: SNX3 was added
gene: SNX3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNX3 were set to No OMIM; Microphthalmia, Syndromic 8, MCOPS8, 601349
Structural eye disease v0.59 SMO Ivone Leong Source London North GLH was added to SMO.
Structural eye disease v0.59 SMG9 Ivone Leong gene: SMG9 was added
gene: SMG9 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMG9 were set to Heart and Brain Malformation Syndrome, HBMS, 616920
Structural eye disease v0.59 SLC25A24 Ivone Leong gene: SLC25A24 was added
gene: SLC25A24 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289
Structural eye disease v0.59 TMEM5 Ivone Leong gene: TMEM5 was added
gene: TMEM5 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041
Structural eye disease v0.59 RIPK4 Ivone Leong gene: RIPK4 was added
gene: RIPK4 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
Structural eye disease v0.59 RERE Ivone Leong gene: RERE was added
gene: RERE was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975
Structural eye disease v0.59 POMT2 Ivone Leong Source London North GLH was added to POMT2.
Structural eye disease v0.59 POMT1 Ivone Leong Source London North GLH was added to POMT1.
Structural eye disease v0.59 POMGNT2 Ivone Leong gene: POMGNT2 was added
gene: POMGNT2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830
Structural eye disease v0.59 POMGNT1 Ivone Leong gene: POMGNT1 was added
gene: POMGNT1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280
Structural eye disease v0.59 FANCL Ivone Leong gene: FANCL was added
gene: FANCL was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FANCL were set to Fanconi Anemia, Complementation Group L, FANCL, 614083
Structural eye disease v0.59 OLFM2 Ivone Leong Source London North GLH was added to OLFM2.
Added phenotypes Bilateral microphthalmia, short stature and facial dysmorphism; No OMIM for gene: OLFM2
Structural eye disease v0.59 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
Structural eye disease v0.59 MITF Ivone Leong Source London North GLH was added to MITF.
Added phenotypes Waardenburg syndrome, type 2a, WS2A, 193510 for gene: MITF
Structural eye disease v0.59 MAPRE2 Ivone Leong gene: MAPRE2 was added
gene: MAPRE2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPRE2 were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734
Structural eye disease v0.59 KIF11 Ivone Leong gene: KIF11 was added
gene: KIF11 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950
Structural eye disease v0.59 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki Syndrome 2, KABUK2, 300867
Structural eye disease v0.59 ISPD Ivone Leong Source London North GLH was added to ISPD.
Structural eye disease v0.59 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, IP, 308300
Structural eye disease v0.59 GLI2 Ivone Leong Source London North GLH was added to GLI2.
Mode of inheritance for gene GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.59 FKTN Ivone Leong gene: FKTN was added
gene: FKTN was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800
Structural eye disease v0.59 FKRP Ivone Leong Source London North GLH was added to FKRP.
Structural eye disease v0.59 FANCI Ivone Leong gene: FANCI was added
gene: FANCI was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi Anemia, Complementation Group I, FANCI, 609053
Structural eye disease v0.59 FANCE Ivone Leong gene: FANCE was added
gene: FANCE was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi Anemia, Complementation Group E, FANCE, 600901
Structural eye disease v0.59 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi Anemia, Complementation Group D2, FANCD2, 227646
Structural eye disease v0.59 FANCA Ivone Leong gene: FANCA was added
gene: FANCA was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi Anemia, Complementation Group A, FA, 227650
Structural eye disease v0.59 ESCO2 Ivone Leong gene: ESCO2 was added
gene: ESCO2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC Phocomelia Syndrome, 269000
Structural eye disease v0.59 DOCK6 Ivone Leong gene: DOCK6 was added
gene: DOCK6 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver Syndrome 2, AOS2, 614219
Structural eye disease v0.59 DAG1 Ivone Leong gene: DAG1 was added
gene: DAG1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Structural eye disease v0.59 C5orf42 Ivone Leong Source London North GLH was added to C5orf42.
Added phenotypes Oriofaciodigital Syndrome VI, OFD6, 277170 for gene: C5orf42
Structural eye disease v0.59 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
Structural eye disease v0.59 B3GALNT2 Ivone Leong gene: B3GALNT2 was added
gene: B3GALNT2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181
Structural eye disease v0.59 ALX3 Ivone Leong gene: ALX3 was added
gene: ALX3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to Frontonasal Dysplasia 1, FND1, 136760
Structural eye disease v0.59 ALX1 Ivone Leong gene: ALX1 was added
gene: ALX1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to Frontonasal Dysplasia 3, FND3, 613456
Structural eye disease v0.58 POMT2 Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Structural eye disease v0.58 POMT2 Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Structural eye disease v0.57 OLFM2 Ivone Leong reviewed gene: OLFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27844144; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.56 OLFM2 Ivone Leong Deleted their review
Structural eye disease v0.56 FKRP Ivone Leong Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 606612
Structural eye disease v0.55 FAT1 Ivone Leong Deleted their comment
Structural eye disease v0.55 FAT1 Ivone Leong commented on gene: FAT1: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Lahrouchi: five families; Ciani mouse mouse model
Structural eye disease v0.55 PRR12 Ivone Leong reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.54 PRR12 Ivone Leong Deleted their review
Structural eye disease v0.54 CPAMD8 Ivone Leong Phenotypes for gene: CPAMD8 were changed from Anterior segment dysgenesis 8 to Anterior segment dysgenesis 8, 617319
Structural eye disease v0.53 CPAMD8 Ivone Leong edited their review of gene: CPAMD8: Changed phenotypes: Anterior segment dysgenesis 8
Structural eye disease v0.52 CPAMD8 Ivone Leong Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8
Structural eye disease v0.51 SLC38A8 Ivone Leong Publications for gene: SLC38A8 were set to
Structural eye disease v0.50 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566
Structural eye disease v0.49 SMAD4 Ivone Leong edited their review of gene: SMAD4: Changed phenotypes: Myhre syndrome, 139210
Structural eye disease v0.49 POMT2 Ivone Leong edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Structural eye disease v0.49 POMT1 Ivone Leong edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Structural eye disease v0.49 MITF Ivone Leong edited their review of gene: MITF: Changed phenotypes: COMMAD syndrome, 617306
Structural eye disease v0.49 KIAA1109 Ivone Leong edited their review of gene: KIAA1109: Changed phenotypes: Alkuraya-Kucinskas syndrome,
Structural eye disease v0.49 ISPD Ivone Leong edited their review of gene: ISPD: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Structural eye disease v0.49 GLI2 Ivone Leong edited their review of gene: GLI2: Changed phenotypes: Holoprosencephaly 9, 610829
Structural eye disease v0.49 FKRP Ivone Leong edited their review of gene: FKRP: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Structural eye disease v0.49 EFTUD2 Ivone Leong edited their review of gene: EFTUD2: Changed phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536
Structural eye disease v0.49 ZIC2 Ivone Leong edited their review of gene: ZIC2: Changed phenotypes: Holoprosencephaly 5, 609637
Structural eye disease v0.49 ZEB2 Ivone Leong edited their review of gene: ZEB2: Changed phenotypes: Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
Structural eye disease v0.49 ZEB1 Ivone Leong edited their review of gene: ZEB1: Changed phenotypes: Corneal dystrophy, posterior polymorphous, 3, Corneal dystrophy, Fuchs endothelial, 6, 609141, 613270
Structural eye disease v0.49 WRN Ivone Leong edited their review of gene: WRN: Changed phenotypes: Werner syndrome , 277700
Structural eye disease v0.49 VSX1 Ivone Leong edited their review of gene: VSX1: Changed phenotypes: Corneal dystrophy, posterior polymorphous, 1, Keratoconus 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, 122000, 148300, 614195
Structural eye disease v0.49 VIM Ivone Leong edited their review of gene: VIM: Changed phenotypes: Cataract 30, pulverulent, 116300
Structural eye disease v0.49 UBIAD1 Ivone Leong edited their review of gene: UBIAD1: Changed phenotypes: Corneal dystrophy, Schnyder type, 121800
Structural eye disease v0.49 TMX3 Ivone Leong edited their review of gene: TMX3: Changed phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia , None
Structural eye disease v0.49 TGFBI Ivone Leong edited their review of gene: TGFBI: Changed phenotypes: Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Thiel-Behnke type, Corneal dystrophy, Avellino type, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, lattice type IIIA, 121820, 121900, 122200, 602082, 607541, 608470, 608471
Structural eye disease v0.49 TDRD7 Ivone Leong edited their review of gene: TDRD7: Changed phenotypes: Cataract 36, 613887
Structural eye disease v0.49 TCOF1 Ivone Leong edited their review of gene: TCOF1: Changed phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500
Structural eye disease v0.49 TBX22 Ivone Leong edited their review of gene: TBX22: Changed phenotypes: ?Abruzzo-Erickson syndrome, 302905
Structural eye disease v0.49 TBC1D32 Ivone Leong edited their review of gene: TBC1D32: Changed phenotypes: Orofaciodigital syndrome 9, 258865
Structural eye disease v0.49 TACSTD2 Ivone Leong edited their review of gene: TACSTD2: Changed phenotypes: Corneal dystrophy, gelatinous drop-like, 204870
Structural eye disease v0.49 SRD5A3 Ivone Leong edited their review of gene: SRD5A3: Changed phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Structural eye disease v0.49 SMCHD1 Ivone Leong edited their review of gene: SMCHD1: Changed phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
Structural eye disease v0.49 SLC4A4 Ivone Leong edited their review of gene: SLC4A4: Changed phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Structural eye disease v0.49 SLC4A11 Ivone Leong edited their review of gene: SLC4A11: Changed phenotypes: Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy 2, autosomal recessive, Corneal dystrophy, Fuchs endothelial, 4, 217400, 217700, 613268
Structural eye disease v0.49 SLC38A8 Ivone Leong edited their review of gene: SLC38A8: Changed phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Structural eye disease v0.49 SLC33A1 Ivone Leong edited their review of gene: SLC33A1: Changed phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482
Structural eye disease v0.49 SLC2A1 Ivone Leong edited their review of gene: SLC2A1: Changed phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Structural eye disease v0.49 SLC16A12 Ivone Leong edited their review of gene: SLC16A12: Changed phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018
Structural eye disease v0.49 SIL1 Ivone Leong edited their review of gene: SIL1: Changed phenotypes: Marinesco-Sjogren syndrome, 248800
Structural eye disease v0.49 SH3PXD2B Ivone Leong edited their review of gene: SH3PXD2B: Changed phenotypes: Frank-ter Haar syndrome, 249420
Structural eye disease v0.49 SEMA3E Ivone Leong edited their review of gene: SEMA3E: Changed phenotypes: CHARGE, 214800
Structural eye disease v0.49 SEC23A Ivone Leong edited their review of gene: SEC23A: Changed phenotypes: Craniolenticulosutural dysplasia, 607812
Structural eye disease v0.49 SCLT1 Ivone Leong edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None
Structural eye disease v0.49 SC5D Ivone Leong edited their review of gene: SC5D: Changed phenotypes: LATHOSTEROLOSIS, 607330
Structural eye disease v0.49 SALL1 Ivone Leong edited their review of gene: SALL1: Changed phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480
Structural eye disease v0.49 PXDN Ivone Leong edited their review of gene: PXDN: Changed phenotypes: Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.49 PTCH1 Ivone Leong edited their review of gene: PTCH1: Changed phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828
Structural eye disease v0.49 PRDM5 Ivone Leong edited their review of gene: PRDM5: Changed phenotypes: Brittle cornea syndrome 2, 614170
Structural eye disease v0.49 PQBP1 Ivone Leong edited their review of gene: PQBP1: Changed phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500
Structural eye disease v0.49 POLR1D Ivone Leong edited their review of gene: POLR1D: Changed phenotypes: Treacher-Collins Syndrome 2, 613717
Structural eye disease v0.49 POLR1C Ivone Leong edited their review of gene: POLR1C: Changed phenotypes: Treacher-Collins Syndrome, 248390
Structural eye disease v0.49 PIKFYVE Ivone Leong edited their review of gene: PIKFYVE: Changed phenotypes: Corneal fleck dystrophy, 121850
Structural eye disease v0.49 PEX6 Ivone Leong edited their review of gene: PEX6: Changed phenotypes: Peroxisome biogenesis disorder 4B, 614863
Structural eye disease v0.49 PEX5 Ivone Leong edited their review of gene: PEX5: Changed phenotypes: Peroxisome biogenesis disorder 2B, 202370
Structural eye disease v0.49 PEX3 Ivone Leong edited their review of gene: PEX3: Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164
Structural eye disease v0.49 PEX26 Ivone Leong edited their review of gene: PEX26: Changed phenotypes: Peroxisome biogenesis disorder 7B, 614873
Structural eye disease v0.49 PEX2 Ivone Leong edited their review of gene: PEX2: Changed phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, 614866, 614867
Structural eye disease v0.49 PEX19 Ivone Leong edited their review of gene: PEX19: Changed phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886
Structural eye disease v0.49 PEX16 Ivone Leong edited their review of gene: PEX16: Changed phenotypes: Peroxisome biogenesis disorder 8B, 614877
Structural eye disease v0.49 PEX14 Ivone Leong edited their review of gene: PEX14: Changed phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887
Structural eye disease v0.49 PEX13 Ivone Leong edited their review of gene: PEX13: Changed phenotypes: Peroxisome biogenesis disorder 11B, 614885
Structural eye disease v0.49 PEX12 Ivone Leong edited their review of gene: PEX12: Changed phenotypes: Peroxisome biogenesis disorder 3B, 266510
Structural eye disease v0.49 PEX11B Ivone Leong edited their review of gene: PEX11B: Changed phenotypes: Peroxisome biogenesis disorder 14B, 614920
Structural eye disease v0.49 PEX10 Ivone Leong edited their review of gene: PEX10: Changed phenotypes: Peroxisome biogenesis disorder 6B, 614871
Structural eye disease v0.49 PDE6D Ivone Leong edited their review of gene: PDE6D: Changed phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
Structural eye disease v0.49 PAX3 Ivone Leong edited their review of gene: PAX3: Changed phenotypes: Waardenburg syndrome, type 3, Waardenburg syndrome, type 1, 148820, 193500
Structural eye disease v0.49 P3H2 Ivone Leong edited their review of gene: P3H2: Changed phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292
Structural eye disease v0.49 OCRL Ivone Leong edited their review of gene: OCRL: Changed phenotypes: Lowe syndrome, 309000
Structural eye disease v0.49 NOTCH2 Ivone Leong edited their review of gene: NOTCH2: Changed phenotypes: Hajdu-Cheney syndrome, Alagille syndrome 2, 102500, 610205
Structural eye disease v0.49 NHS Ivone Leong edited their review of gene: NHS: Changed phenotypes: Cataract 40, X-linked, Nance-Horan syndrome, 302200, 302350
Structural eye disease v0.49 NF2 Ivone Leong edited their review of gene: NF2: Changed phenotypes: Neurofibromatosis, Type II, 101000
Structural eye disease v0.49 MYH9 Ivone Leong edited their review of gene: MYH9: Changed phenotypes: Epstein Syndrome, Fechtner syndrome, 153650, 153640
Structural eye disease v0.49 MIR184 Ivone Leong edited their review of gene: MIR184: Changed phenotypes: EDICT syndrome, 614303
Structural eye disease v0.49 MIP Ivone Leong edited their review of gene: MIP: Changed phenotypes: Cataract 15, multiple types, 615274
Structural eye disease v0.49 MAN2B1 Ivone Leong edited their review of gene: MAN2B1: Changed phenotypes: Mannosidosis, alpha-, types I and II, 248500
Structural eye disease v0.49 LMX1B Ivone Leong edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, 161200
Structural eye disease v0.49 LIM2 Ivone Leong edited their review of gene: LIM2: Changed phenotypes: Cataract 19, 615277
Structural eye disease v0.49 LCAT Ivone Leong edited their review of gene: LCAT: Changed phenotypes: Fish-eye disease, Norum disease, 136120, 245900
Structural eye disease v0.49 LAMB2 Ivone Leong edited their review of gene: LAMB2: Changed phenotypes: Pierson syndrome, Nephrotic syndrome, type 5, with or without ocular abnormalities, 609049, 614199
Structural eye disease v0.49 KRT3 Ivone Leong edited their review of gene: KRT3: Changed phenotypes: Meesmann corneal dystrophy, 122100
Structural eye disease v0.49 KRT12 Ivone Leong edited their review of gene: KRT12: Changed phenotypes: Meesmann corneal dystrophy, 122100
Structural eye disease v0.49 KMT2D Ivone Leong edited their review of gene: KMT2D: Changed phenotypes: Kabuki syndrome 1 (can include coloboma), 147920, add review paper
Structural eye disease v0.49 KERA Ivone Leong edited their review of gene: KERA: Changed phenotypes: Cornea plana congenita, recessive, 217300
Structural eye disease v0.49 KAT6B Ivone Leong edited their review of gene: KAT6B: Changed phenotypes: SBBYSS syndrome (blepharophimosis), 603736
Structural eye disease v0.49 JAM3 Ivone Leong edited their review of gene: JAM3: Changed phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Structural eye disease v0.49 ITPR1 Ivone Leong edited their review of gene: ITPR1: Changed phenotypes: Gillespie syndrome, 206700
Structural eye disease v0.49 ITPA Ivone Leong edited their review of gene: ITPA: Changed phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None
Structural eye disease v0.49 HSF4 Ivone Leong edited their review of gene: HSF4: Changed phenotypes: Cataract 5, multiple types, 116800
Structural eye disease v0.49 GSN Ivone Leong edited their review of gene: GSN: Changed phenotypes: Amyloidosis, Finnish type, 105120
Structural eye disease v0.49 GNPTG Ivone Leong edited their review of gene: GNPTG: Changed phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605
Structural eye disease v0.49 GJA8 Ivone Leong edited their review of gene: GJA8: Changed phenotypes: Cataract 1, multiple types, 116200
Structural eye disease v0.49 GJA3 Ivone Leong edited their review of gene: GJA3: Changed phenotypes: Cataract 14, multiple types, 601885
Structural eye disease v0.49 GFER Ivone Leong edited their review of gene: GFER: Changed phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Structural eye disease v0.49 GCNT2 Ivone Leong edited their review of gene: GCNT2: Changed phenotypes: Cataract 13 with adult i phenotype, 116700
Structural eye disease v0.49 GALT Ivone Leong edited their review of gene: GALT: Changed phenotypes: Galactosemia, 230400
Structural eye disease v0.49 GALK1 Ivone Leong edited their review of gene: GALK1: Changed phenotypes: Galactokinase deficiency with cataracts, 230200
Structural eye disease v0.49 FZD5 Ivone Leong edited their review of gene: FZD5: Changed phenotypes: Coloboma, None
Structural eye disease v0.49 FYCO1 Ivone Leong edited their review of gene: FYCO1: Changed phenotypes: Cataract 18, autosomal recessive, 610019
Structural eye disease v0.49 FTL Ivone Leong edited their review of gene: FTL: Changed phenotypes: Hyperferritinemia-cataract syndrome, 600886
Structural eye disease v0.49 FOXL2 Ivone Leong edited their review of gene: FOXL2: Changed phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100
Structural eye disease v0.49 FNBP4 Ivone Leong edited their review of gene: FNBP4: Changed phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920
Structural eye disease v0.49 FBN1 Ivone Leong edited their review of gene: FBN1: Changed phenotypes: Ectopia lentis, familial, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan lipodystrophy syndrome, 129600, 154700, 604308, 608328, 616914
Structural eye disease v0.49 FAM126A Ivone Leong edited their review of gene: FAM126A: Changed phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Structural eye disease v0.49 FAM111A Ivone Leong edited their review of gene: FAM111A: Changed phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361
Structural eye disease v0.49 FADD Ivone Leong edited their review of gene: FADD: Changed phenotypes: Iris coloboma, retinal coloboma , None
Structural eye disease v0.49 EYA1 Ivone Leong edited their review of gene: EYA1: Changed phenotypes: Anterior segment anomalies with or without cataract, Branchiootic syndrome 1, 113650, 602588
Structural eye disease v0.49 EPHA2 Ivone Leong edited their review of gene: EPHA2: Changed phenotypes: Cataract 6, multiple types, 116600
Structural eye disease v0.49 EPG5 Ivone Leong edited their review of gene: EPG5: Changed phenotypes: Vici syndrome, 242840
Structural eye disease v0.49 DPYD Ivone Leong edited their review of gene: DPYD: Changed phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270
Structural eye disease v0.49 DHX38 Ivone Leong edited their review of gene: DHX38: Changed phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220
Structural eye disease v0.49 DHCR7 Ivone Leong edited their review of gene: DHCR7: Changed phenotypes: Smith-Lemli-Opitz syndrome, 270400
Structural eye disease v0.49 DCN Ivone Leong edited their review of gene: DCN: Changed phenotypes: Corneal dystrophy, congenital stromal, 610048
Structural eye disease v0.49 CTDP1 Ivone Leong edited their review of gene: CTDP1: Changed phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Structural eye disease v0.49 CRYGS Ivone Leong edited their review of gene: CRYGS: Changed phenotypes: Cataract 20, multiple types, 116100
Structural eye disease v0.49 CRYGD Ivone Leong edited their review of gene: CRYGD: Changed phenotypes: Cataract 4, Multiple Types, 115700
Structural eye disease v0.49 CRYGC Ivone Leong edited their review of gene: CRYGC: Changed phenotypes: Cataract 2, multiple types (often with microcornea), 604307
Structural eye disease v0.49 CRYGB Ivone Leong edited their review of gene: CRYGB: Changed phenotypes: Cataract 39, multiple types, autosomal dominant, 615188
Structural eye disease v0.49 CRYBB3 Ivone Leong edited their review of gene: CRYBB3: Changed phenotypes: Cataract 22, autosomal recessive, 609741
Structural eye disease v0.49 CRYBB2 Ivone Leong edited their review of gene: CRYBB2: Changed phenotypes: Cataract 3, multiple types, 601547
Structural eye disease v0.49 CRYBB1 Ivone Leong edited their review of gene: CRYBB1: Changed phenotypes: Cataract 17, multiple types, 611544
Structural eye disease v0.49 CRYBA4 Ivone Leong edited their review of gene: CRYBA4: Changed phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425
Structural eye disease v0.49 CRYBA1 Ivone Leong edited their review of gene: CRYBA1: Changed phenotypes: Cataract 10, multiple types, 600881
Structural eye disease v0.49 CRYAB Ivone Leong edited their review of gene: CRYAB: Changed phenotypes: CATARACT 16, MULTIPLE TYPES, 613763
Structural eye disease v0.49 CRYAA Ivone Leong edited their review of gene: CRYAA: Changed phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219
Structural eye disease v0.49 CRIM1 Ivone Leong edited their review of gene: CRIM1: Changed phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499
Structural eye disease v0.49 COL8A2 Ivone Leong edited their review of gene: COL8A2: Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, 136800, 609140
Structural eye disease v0.49 COL18A1 Ivone Leong edited their review of gene: COL18A1: Changed phenotypes: Knobloch syndrome, type 1, 267750
Structural eye disease v0.49 CHST6 Ivone Leong edited their review of gene: CHST6: Changed phenotypes: Macular corneal dystrophy, 217800
Structural eye disease v0.49 CHRDL1 Ivone Leong edited their review of gene: CHRDL1: Changed phenotypes: Megalocornea 1, X-linked, 309300
Structural eye disease v0.49 CHMP4B Ivone Leong edited their review of gene: CHMP4B: Changed phenotypes: Cataract 31, multiple types, 605387
Structural eye disease v0.49 CBS Ivone Leong edited their review of gene: CBS: Changed phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Structural eye disease v0.49 BFSP2 Ivone Leong edited their review of gene: BFSP2: Changed phenotypes: Cataract 12, multiple types, 611597
Structural eye disease v0.49 BFSP1 Ivone Leong edited their review of gene: BFSP1: Changed phenotypes: Cataract 33, 611391
Structural eye disease v0.49 ALDH18A1 Ivone Leong edited their review of gene: ALDH18A1: Changed phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150
Structural eye disease v0.49 AGPS Ivone Leong edited their review of gene: AGPS: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121
Structural eye disease v0.49 AGK Ivone Leong edited their review of gene: AGK: Changed phenotypes: Sengers syndrome, Cataract 38, autosomal recessive, 212350, 614691
Structural eye disease v0.48 ZNF513 Ivone Leong edited their review of gene: ZNF513: Changed phenotypes: Retinitis pigmentosa 58, 613617
Structural eye disease v0.48 ZNF423 Ivone Leong edited their review of gene: ZNF423: Changed phenotypes: Joubert syndrome 19, 614844, Nephronophthisis 14, 614844
Structural eye disease v0.48 XPC Ivone Leong edited their review of gene: XPC: Changed phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720
Structural eye disease v0.48 XPA Ivone Leong edited their review of gene: XPA: Changed phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700
Structural eye disease v0.48 WT1 Ivone Leong edited their review of gene: WT1: Changed phenotypes: WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072
Structural eye disease v0.48 WHRN Ivone Leong edited their review of gene: WHRN: Changed phenotypes: Usher syndrome, type 2D, 611383
Structural eye disease v0.48 WFS1 Ivone Leong edited their review of gene: WFS1: Changed phenotypes: Wolfram syndrome, 222300, Wolfram-like syndrome, autosomal dominant, 614296, ?Cataract 41, 116400
Structural eye disease v0.48 WDR36 Ivone Leong edited their review of gene: WDR36: Changed phenotypes: Glaucoma 1, open angle, G, 609887
Structural eye disease v0.48 WDPCP Ivone Leong edited their review of gene: WDPCP: Changed phenotypes: ?Bardet-Biedl syndrome 15, 615992
Structural eye disease v0.48 VCAN Ivone Leong edited their review of gene: VCAN: Changed phenotypes: Wagner syndrome 1, 143200
Structural eye disease v0.48 VAX1 Ivone Leong edited their review of gene: VAX1: Changed phenotypes: Microphthalmia, syndromic 11, 614402
Structural eye disease v0.48 USH2A Ivone Leong edited their review of gene: USH2A: Changed phenotypes: Retinitis pigmentosa 39, 613809, Usher syndrome type 2A, 276901
Structural eye disease v0.48 USH1G Ivone Leong edited their review of gene: USH1G: Changed phenotypes: Usher syndrome, type 1G, 606943
Structural eye disease v0.48 USH1C Ivone Leong edited their review of gene: USH1C: Changed phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome type 1C, 276904
Structural eye disease v0.48 UNC119 Ivone Leong edited their review of gene: UNC119: Changed phenotypes: Cone-rod dystrophy, Immunodeficiency 13, 615518
Structural eye disease v0.48 TYRP1 Ivone Leong edited their review of gene: TYRP1: Changed phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271
Structural eye disease v0.48 TYR Ivone Leong edited their review of gene: TYR: Changed phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8}
Structural eye disease v0.48 TULP1 Ivone Leong edited their review of gene: TULP1: Changed phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132
Structural eye disease v0.48 TTC8 Ivone Leong edited their review of gene: TTC8: Changed phenotypes: Retinitis pigmentosa 51, 613464, Bardet-Biedl syndrome 8, 615985
Structural eye disease v0.48 TTC21B Ivone Leong edited their review of gene: TTC21B: Changed phenotypes: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819
Structural eye disease v0.48 TSPAN12 Ivone Leong edited their review of gene: TSPAN12: Changed phenotypes: Exudative vitreoretinopathy 5, 613310
Structural eye disease v0.48 TRPM1 Ivone Leong edited their review of gene: TRPM1: Changed phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Structural eye disease v0.48 TRIM44 Ivone Leong edited their review of gene: TRIM44: Changed phenotypes: ANIRIDIA 3, 617142
Structural eye disease v0.48 TRIM32 Ivone Leong edited their review of gene: TRIM32: Changed phenotypes: Bardet-Biedl syndrome 11, 615988, Muscular dystrophy, limb-girdle, type 2H, 254110
Structural eye disease v0.48 TPP1 Ivone Leong edited their review of gene: TPP1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
Structural eye disease v0.48 TOPORS Ivone Leong edited their review of gene: TOPORS: Changed phenotypes: Retinitis pigmentosa 31, 609923
Structural eye disease v0.48 TMEM67 Ivone Leong edited their review of gene: TMEM67: Changed phenotypes: COACH syndrome, 216360, Joubert syndrome 6, 610688, Meckel syndrome 3, 607361, Nephronophthisis 11, 613550, {Bardet-Biedl syndrome 14, modifer of}, 615991
Structural eye disease v0.48 TMEM237 Ivone Leong edited their review of gene: TMEM237: Changed phenotypes: Joubert syndrome 14, 614424
Structural eye disease v0.48 TMEM231 Ivone Leong edited their review of gene: TMEM231: Changed phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Structural eye disease v0.48 TMEM216 Ivone Leong edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, 608091, Meckel syndrome 2, 603194
Structural eye disease v0.48 TMEM138 Ivone Leong edited their review of gene: TMEM138: Changed phenotypes: Joubert syndrome 16, 614465
Structural eye disease v0.48 TMEM126A Ivone Leong edited their review of gene: TMEM126A: Changed phenotypes: Optic atrophy, 612989
Structural eye disease v0.48 TIMP3 Ivone Leong edited their review of gene: TIMP3: Changed phenotypes: Sorsby fundus dystrophy, 136900
Structural eye disease v0.48 TIMM8A Ivone Leong edited their review of gene: TIMM8A: Changed phenotypes: Mohr-Tranebjaerg syndrome, 304700
Structural eye disease v0.48 TFAP2A Ivone Leong edited their review of gene: TFAP2A: Changed phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620
Structural eye disease v0.48 TENM3 Ivone Leong edited their review of gene: TENM3: Changed phenotypes: Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.48 TCTN3 Ivone Leong edited their review of gene: TCTN3: Changed phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860
Structural eye disease v0.48 TCTN2 Ivone Leong edited their review of gene: TCTN2: Changed phenotypes: Meckel syndrome 8, 613885, Joubert syndrome 24, 616654
Structural eye disease v0.48 TCTN1 Ivone Leong edited their review of gene: TCTN1: Changed phenotypes: Joubert syndrome 13, 614173
Structural eye disease v0.48 SPINT2 Ivone Leong edited their review of gene: SPINT2: Changed phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420
Structural eye disease v0.48 SPATA7 Ivone Leong edited their review of gene: SPATA7: Changed phenotypes: Leber congenital amaurosis 3, 604232, Retinitis pigmentosa, juvenile, autosomal recessive, 604232
Structural eye disease v0.48 SNRNP200 Ivone Leong edited their review of gene: SNRNP200: Changed phenotypes: Retinitis pigmentosa 33, 610359
Structural eye disease v0.48 SLC45A2 Ivone Leong edited their review of gene: SLC45A2: Changed phenotypes: Albinism, oculocutaneous, type IV, 606574, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], 227240
Structural eye disease v0.48 SLC24A5 Ivone Leong edited their review of gene: SLC24A5: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750
Structural eye disease v0.48 SLC24A1 Ivone Leong edited their review of gene: SLC24A1: Changed phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Structural eye disease v0.48 SIX3 Ivone Leong edited their review of gene: SIX3: Changed phenotypes: Holoprosencephaly 2, 157170
Structural eye disease v0.48 SEMA4A Ivone Leong edited their review of gene: SEMA4A: Changed phenotypes: Retinitis pigmentosa 35, 610282, Cone-rod dystrophy 10, 610283
Structural eye disease v0.48 SDCCAG8 Ivone Leong edited their review of gene: SDCCAG8: Changed phenotypes: Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993
Structural eye disease v0.48 SALL2 Ivone Leong edited their review of gene: SALL2: Changed phenotypes: Coloboma, ocular, autosomal recessive, 216820
Structural eye disease v0.48 SAG Ivone Leong edited their review of gene: SAG: Changed phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758
Structural eye disease v0.48 RS1 Ivone Leong edited their review of gene: RS1: Changed phenotypes: Retinoschisis, 312700
Structural eye disease v0.48 RPGRIP1 Ivone Leong edited their review of gene: RPGRIP1: Changed phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826
Structural eye disease v0.48 RPGR Ivone Leong edited their review of gene: RPGR: Changed phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020
Structural eye disease v0.48 RPE65 Ivone Leong edited their review of gene: RPE65: Changed phenotypes: Leber congenital amaurosis 2, 204100
Structural eye disease v0.48 RP9 Ivone Leong edited their review of gene: RP9: Changed phenotypes: ?Retinitis pigmentosa 9, 180104
Structural eye disease v0.48 RP2 Ivone Leong edited their review of gene: RP2: Changed phenotypes: Retinitis pigmentosa 2, 312600
Structural eye disease v0.48 RP1 Ivone Leong edited their review of gene: RP1: Changed phenotypes: Retinitis pigmentosa 1, 180100
Structural eye disease v0.48 ROM1 Ivone Leong edited their review of gene: ROM1: Changed phenotypes: Retinitis pigmentosa 7, digenic, 608133
Structural eye disease v0.48 RLBP1 Ivone Leong edited their review of gene: RLBP1: Changed phenotypes: Bothnia retinal dystrophy, Newfoundland rod-cone dystrophy, Fundus albipunctatus, 607475, 607476, 136880
Structural eye disease v0.48 RIMS1 Ivone Leong edited their review of gene: RIMS1: Changed phenotypes: Cone-rod dystrophy 7, 603649
Structural eye disease v0.48 RHO Ivone Leong edited their review of gene: RHO: Changed phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, 613731, Night blindness, congenital stationary, autosomal dominant 1, 610445, Fundus albipunctatus, 136880
Structural eye disease v0.48 RGS9BP Ivone Leong edited their review of gene: RGS9BP: Changed phenotypes: Bradyopsia, 608415
Structural eye disease v0.48 RGR Ivone Leong edited their review of gene: RGR: Changed phenotypes: Retinitis pigmentosa 44, 613769
Structural eye disease v0.48 RDH5 Ivone Leong edited their review of gene: RDH5: Changed phenotypes: Fundus albipunctatus, 136880
Structural eye disease v0.48 RDH12 Ivone Leong edited their review of gene: RDH12: Changed phenotypes: Leber congenital amaurosis 13, 612712
Structural eye disease v0.48 RD3 Ivone Leong edited their review of gene: RD3: Changed phenotypes: Leber congenital amaurosis 12, 610612
Structural eye disease v0.48 RBP3 Ivone Leong edited their review of gene: RBP3: Changed phenotypes: ?Retinitis pigmentosa 66, 615233
Structural eye disease v0.48 RAX2 Ivone Leong edited their review of gene: RAX2: Changed phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757
Structural eye disease v0.48 PRPH2 Ivone Leong edited their review of gene: PRPH2: Changed phenotypes: Retinitis punctata albescens, 136880, Macular dystrophy, patterned, 1, 169150, Leber congenital amaurosis 18, 608133, Macular dystrophy, vitelliform, 3, 608161, Choriodal dystrophy, central areolar 2, 613105
Structural eye disease v0.48 PRPF8 Ivone Leong edited their review of gene: PRPF8: Changed phenotypes: Retinitis pigmentosa 13, 600059
Structural eye disease v0.48 PRPF6 Ivone Leong edited their review of gene: PRPF6: Changed phenotypes: Retinitis pigmentosa 60, 613983
Structural eye disease v0.48 PRPF31 Ivone Leong edited their review of gene: PRPF31: Changed phenotypes: Retinitis pigmentosa 11, 600138
Structural eye disease v0.48 PRPF3 Ivone Leong edited their review of gene: PRPF3: Changed phenotypes: Retinitis pigmentosa 18, 601414
Structural eye disease v0.48 PROM1 Ivone Leong edited their review of gene: PROM1: Changed phenotypes: Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657
Structural eye disease v0.48 PRCD Ivone Leong edited their review of gene: PRCD: Changed phenotypes: Retinitis pigmentosa 36, 610599
Structural eye disease v0.48 PPT1 Ivone Leong edited their review of gene: PPT1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730
Structural eye disease v0.48 POLH Ivone Leong edited their review of gene: POLH: Changed phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750
Structural eye disease v0.48 PLA2G5 Ivone Leong edited their review of gene: PLA2G5: Changed phenotypes: [Fleck retina, familial benign], 228980
Structural eye disease v0.48 PITX3 Ivone Leong edited their review of gene: PITX3: Changed phenotypes: Anterior segment mesenchymal dysgenesis, 107250, Cataract 11, multiple types, 610623
Structural eye disease v0.48 PITPNM3 Ivone Leong edited their review of gene: PITPNM3: Changed phenotypes: Cone-rod dystrophy 5, 600977
Structural eye disease v0.48 PHYH Ivone Leong edited their review of gene: PHYH: Changed phenotypes: Refsum disease, 266500
Structural eye disease v0.48 PEX7 Ivone Leong edited their review of gene: PEX7: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879
Structural eye disease v0.48 PDZD7 Ivone Leong edited their review of gene: PDZD7: Changed phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901
Structural eye disease v0.48 PDE6H Ivone Leong edited their review of gene: PDE6H: Changed phenotypes: Achromatopsia 6, 610024
Structural eye disease v0.48 PDE6G Ivone Leong edited their review of gene: PDE6G: Changed phenotypes: Retinitis pigmentosa 57, 613582
Structural eye disease v0.48 PDE6C Ivone Leong edited their review of gene: PDE6C: Changed phenotypes: Cone dystrophy 4, 613093
Structural eye disease v0.48 PDE6B Ivone Leong edited their review of gene: PDE6B: Changed phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801
Structural eye disease v0.48 PDE6A Ivone Leong edited their review of gene: PDE6A: Changed phenotypes: Retinitis pigmentosa 43, 613810
Structural eye disease v0.48 PCDH15 Ivone Leong edited their review of gene: PCDH15: Changed phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533
Structural eye disease v0.48 OPTN Ivone Leong edited their review of gene: OPTN: Changed phenotypes: Glaucoma 1, open angle, E, 137760
Structural eye disease v0.48 OPA3 Ivone Leong edited their review of gene: OPA3: Changed phenotypes: Optic atrophy 3 with cataract, 165300
Structural eye disease v0.48 OPA1 Ivone Leong edited their review of gene: OPA1: Changed phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000
Structural eye disease v0.48 OFD1 Ivone Leong edited their review of gene: OFD1: Changed phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424
Structural eye disease v0.48 OCA2 Ivone Leong edited their review of gene: OCA2: Changed phenotypes: Albinism, brown oculocutaneous, 203200, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
Structural eye disease v0.48 OAT Ivone Leong edited their review of gene: OAT: Changed phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, 258870
Structural eye disease v0.48 NYX Ivone Leong edited their review of gene: NYX: Changed phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Structural eye disease v0.48 NTF4 Ivone Leong edited their review of gene: NTF4: Changed phenotypes: GLAUCOMA 1, OPEN ANGLE, O, 613100
Structural eye disease v0.48 NRL Ivone Leong edited their review of gene: NRL: Changed phenotypes: Retinitis pigmentosa 27, 613750
Structural eye disease v0.48 NR2E3 Ivone Leong edited their review of gene: NR2E3: Changed phenotypes: Retinitis pigmentosa 37, 611131, Enhanced S-cone syndrome, 268100
Structural eye disease v0.48 NPHP4 Ivone Leong edited their review of gene: NPHP4: Changed phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996
Structural eye disease v0.48 NPHP3 Ivone Leong edited their review of gene: NPHP3: Changed phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540
Structural eye disease v0.48 NPHP1 Ivone Leong edited their review of gene: NPHP1: Changed phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583
Structural eye disease v0.48 NDP Ivone Leong edited their review of gene: NDP: Changed phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600
Structural eye disease v0.48 NAA10 Ivone Leong edited their review of gene: NAA10: Changed phenotypes: Microphthalmia, syndromic 1, 309800
Structural eye disease v0.48 MYO7A Ivone Leong edited their review of gene: MYO7A: Changed phenotypes: Usher syndrome, type 1B, 276900, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, 601317
Structural eye disease v0.48 MTTP Ivone Leong edited their review of gene: MTTP: Changed phenotypes: Abetalipoproteinemia, 200100
Structural eye disease v0.48 MPLKIP Ivone Leong edited their review of gene: MPLKIP: Changed phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050
Structural eye disease v0.48 MKS1 Ivone Leong edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000
Structural eye disease v0.48 MKKS Ivone Leong edited their review of gene: MKKS: Changed phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700
Structural eye disease v0.48 MIR204 Ivone Leong edited their review of gene: MIR204: Changed phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722
Structural eye disease v0.48 MFSD8 Ivone Leong edited their review of gene: MFSD8: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170
Structural eye disease v0.47 MFN2 Ivone Leong edited their review of gene: MFN2: Changed phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260
Structural eye disease v0.47 MERTK Ivone Leong edited their review of gene: MERTK: Changed phenotypes: Retinitis pigmentosa 38, 613862
Structural eye disease v0.47 MAK Ivone Leong edited their review of gene: MAK: Changed phenotypes: Retinitis pigmentosa 62, 614181
Structural eye disease v0.47 LZTFL1 Ivone Leong edited their review of gene: LZTFL1: Changed phenotypes: Bardet-Biedl syndrome 17, 615994
Structural eye disease v0.47 LRP5 Ivone Leong edited their review of gene: LRP5: Changed phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2
Structural eye disease v0.47 LRMDA Ivone Leong edited their review of gene: LRMDA: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179
Structural eye disease v0.46 AGBL1 Ivone Leong Deleted their comment
Structural eye disease v0.46 AGBL1 Ivone Leong edited their review of gene: AGBL1: Added comment: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Late onset corneal dystrophy, no evidence for involvement in structural eye disease; Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523
Structural eye disease v0.46 ADAMTSL4 Ivone Leong reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20702823, 20141359, 25975359 ; Phenotypes: Ectopia lentis, isolated, autosomal recessive, Ectopia lentis et pupillae, 225100, 225200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.46 ADAMTS18 Ivone Leong reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 23818446; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.45 ADAMTSL4 Ivone Leong Deleted their review
Structural eye disease v0.45 ADAMTS18 Ivone Leong Deleted their review
Structural eye disease v0.45 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998
Structural eye disease v0.44 PTCH1 Ivone Leong Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (can include microphthalmia), 610828 to Holoprosencephaly 7 (can include microphthalmia), 610828; Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.43 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850
Structural eye disease v0.42 KMT2D Ivone Leong Classified gene: KMT2D as Amber List (moderate evidence)
Structural eye disease v0.42 KMT2D Ivone Leong Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.41 GJA8 Ivone Leong Publications for gene: GJA8 were set to 29464339
Structural eye disease v0.40 GJA8 Ivone Leong Publications for gene: GJA8 were set to
Structural eye disease v0.39 FAT1 Ivone Leong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30862798, 12724416 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SMAD4 Ivone Leong reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 20735985, 11977156; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 PRR12 Ivone Leong reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724; Phenotypes: Myhre syndrome, 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 POMT2 Ivone Leong reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15894594, 28815891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 POMT1 Ivone Leong reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12369018, 15037715; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 OLFM2 Ivone Leong reviewed gene: OLFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27844144; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 MITF Ivone Leong reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 KIAA1109 Ivone Leong reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290337, 617822; Phenotypes: COMMAD syndrome, 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ISPD Ivone Leong edited their review of gene: ISPD: Added comment: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Roscioli: six families with microphthalmia and one with Peter's anomaly; Changed rating: GREEN; Changed publications: 22522421; Changed phenotypes: Alkuraya-Kucinskas syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 IPO13 Ivone Leong reviewed gene: IPO13: Rating: AMBER; Mode of pathogenicity: ; Publications: 29700284; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 GLI2 Ivone Leong reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17096318, 21204792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 FKRP Ivone Leong reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20236121, 15121789, 19955119, 20675713 ; Phenotypes: Holoprosencephaly 9, 610829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 EFTUD2 Ivone Leong reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26118977; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Mode of inheritance: mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CPAMD8 Ivone Leong reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ZIC2 Ivone Leong reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ZEB2 Ivone Leong reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16053902; Phenotypes: Holoprosencephaly 5, 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ZEB1 Ivone Leong reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 WRN Ivone Leong reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 3, 609141, Corneal dystrophy, Fuchs endothelial, 6, 613270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 VSX1 Ivone Leong reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 15051220; Phenotypes: Werner syndrome, 277700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 VIM Ivone Leong reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, 122000, Keratoconus 1, 148300, Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 UBIAD1 Ivone Leong reviewed gene: UBIAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 30, pulverulent, 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 TMX3 Ivone Leong reviewed gene: TMX3: Rating: AMBER; Mode of pathogenicity: ; Publications: Chao et al 2010 PMID: 20485507; Phenotypes: Corneal dystrophy, Schnyder type, 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 TGFBI Ivone Leong reviewed gene: TGFBI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 TDRD7 Ivone Leong reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Thiel-Behnke type, Corneal dystrophy, Avellino type, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, lattice type IIIA, 121820, 121900, 122200, 602082, 607541, 608470, 608471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 TCOF1 Ivone Leong reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 8741923, 10888597; Phenotypes: Cataract 36, 613887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 TBX22 Ivone Leong reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: ; Publications: 22784330; Phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.39 TBC1D32 Ivone Leong reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: ; Publications: 24285566; Phenotypes: ?Abruzzo-Erickson syndrome, 302905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 TACSTD2 Ivone Leong reviewed gene: TACSTD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome 9, 258865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SRD5A3 Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 20700148, 26219881; Phenotypes: Corneal dystrophy, gelatinous drop-like, 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SMCHD1 Ivone Leong reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28067909, 28067911; Phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SLC4A4 Ivone Leong reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10545938, 11274232; Phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC4A11 Ivone Leong reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC38A8 Ivone Leong reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, 217400, Corneal endothelial dystrophy 2, autosomal recessive, 217700, Corneal dystrophy, Fuchs endothelial, 4, 613268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC33A1 Ivone Leong reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SLC2A1 Ivone Leong reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SLC16A12 Ivone Leong reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SIL1 Ivone Leong reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SH3PXD2B Ivone Leong reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 29100834 ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SEMA3E Ivone Leong reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frank-ter Haar syndrome, 249420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 SEC23A Ivone Leong reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARGE, 214800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SCLT1 Ivone Leong reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24285566, 29450879; Phenotypes: Craniolenticulosutural dysplasia, 607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SC5D Ivone Leong reviewed gene: SC5D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SALL1 Ivone Leong reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9973281, 16088922, 17221874; Phenotypes: LATHOSTEROLOSIS, 607330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 PXDN Ivone Leong reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24939590, 21907015, 29450879; Phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PTCH1 Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16024850, 17001668; Phenotypes: Corneal opacification and other ocular anomalies, 269400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 PRDM5 Ivone Leong reviewed gene: PRDM5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PQBP1 Ivone Leong reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17033686; Phenotypes: Brittle cornea syndrome 2, 614170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 POLR1D Ivone Leong reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 POLR1C Ivone Leong reviewed gene: POLR1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome 2, 613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PIKFYVE Ivone Leong reviewed gene: PIKFYVE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome, 248390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 PEX6 Ivone Leong reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal fleck dystrophy, 121850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX5 Ivone Leong reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX3 Ivone Leong reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX26 Ivone Leong reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX2 Ivone Leong reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX19 Ivone Leong reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX16 Ivone Leong reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX14 Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX13 Ivone Leong reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX12 Ivone Leong reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX11B Ivone Leong reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX10 Ivone Leong reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PDE6D Ivone Leong reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 24166846; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PAX3 Ivone Leong reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 P3H2 Ivone Leong reviewed gene: P3H2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Waardenburg syndrome, type 3, 148820, Waardenburg syndrome, type 1, 193500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 OCRL Ivone Leong reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 19168822; Phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: ; Publications: 22173065; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 NHS Ivone Leong reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28922055, 23566852, 17417607 ; Phenotypes: Hajdu-Cheney syndrome, 102500, Alagille syndrome 2, 610205; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.39 NF2 Ivone Leong reviewed gene: NF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 40, X-linked, 302200, Nance-Horan syndrome, 302350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MYH9 Ivone Leong reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, Type II, 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MIR184 Ivone Leong reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epstein Syndrome, 153650, Fechtner syndrome, 153640 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MIP Ivone Leong reviewed gene: MIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EDICT syndrome, 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MAN2B1 Ivone Leong reviewed gene: MAN2B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 15, multiple types, 615274; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 LMX1B Ivone Leong reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, 248500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 LIM2 Ivone Leong reviewed gene: LIM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome, 161200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 LCAT Ivone Leong reviewed gene: LCAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 19, 615277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 LAMB2 Ivone Leong reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30778388, 30120985, 28683731, 28188379, 27130041, 29450879; Phenotypes: Fish-eye disease, 136120, Norum disease, 245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 KRT3 Ivone Leong reviewed gene: KRT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pierson syndrome, 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 KRT12 Ivone Leong reviewed gene: KRT12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 KMT2D Ivone Leong reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 KERA Ivone Leong reviewed gene: KERA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 1 (can include coloboma), 147920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 KAT6B Ivone Leong reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornea plana congenita, recessive, 217300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 JAM3 Ivone Leong reviewed gene: JAM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SBBYSS syndrome (blepharophimosis), 603736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ITPR1 Ivone Leong reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ITPA Ivone Leong reviewed gene: ITPA: Rating: RED; Mode of pathogenicity: ; Publications: 26224535; Phenotypes: Gillespie syndrome, 206700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 HSF4 Ivone Leong reviewed gene: HSF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GSN Ivone Leong reviewed gene: GSN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 5, multiple types, 116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 GNPTG Ivone Leong reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, Finnish type, 105120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 GJA8 Ivone Leong reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GJA3 Ivone Leong reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 1, multiple types, 116200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GFER Ivone Leong reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 14, multiple types, 601885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 GCNT2 Ivone Leong reviewed gene: GCNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GALT Ivone Leong reviewed gene: GALT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 13 with adult i phenotype, 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 GALK1 Ivone Leong reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia, 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FZD5 Ivone Leong reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 26908622; Phenotypes: Galactokinase deficiency with cataracts, 230200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FYCO1 Ivone Leong reviewed gene: FYCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coloboma, None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FTL Ivone Leong reviewed gene: FTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 18, autosomal recessive, 610019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FOXL2 Ivone Leong reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FNBP4 Ivone Leong reviewed gene: FNBP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FBN1 Ivone Leong reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1301946, 8136837; Phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FAM126A Ivone Leong reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectopia lentis, familial, 129600, Marfan syndrome, 154700, MASS syndrome, 604308, Weill-Marchesani syndrome 2, dominant, 608328, Marfan lipodystrophy syndrome, 616914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FAM111A Ivone Leong reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 FADD Ivone Leong reviewed gene: FADD: Rating: RED; Mode of pathogenicity: ; Publications: 17656375; Phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 EYA1 Ivone Leong reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Iris coloboma, retinal coloboma, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 EPHA2 Ivone Leong reviewed gene: EPHA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract, 113650, Branchiootic syndrome 1, 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 EPG5 Ivone Leong reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 6, multiple types, 116600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DPYD Ivone Leong reviewed gene: DPYD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Vici syndrome, 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 DHX38 Ivone Leong reviewed gene: DHX38: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DCN Ivone Leong reviewed gene: DCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, 270400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CYP51A1 Ivone Leong reviewed gene: CYP51A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, congenital stromal, 610048; Mode of inheritance:
Structural eye disease v0.39 CTDP1 Ivone Leong reviewed gene: CTDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYGS Ivone Leong reviewed gene: CRYGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CRYGD Ivone Leong reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 20, multiple types, 116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYGC Ivone Leong reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24281366, 29386872; Phenotypes: Cataract 4, Multiple Types, 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYGB Ivone Leong reviewed gene: CRYGB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 2, multiple types (often with microcornea), 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBB3 Ivone Leong reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 39, multiple types, autosomal dominant, 615188; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYBB2 Ivone Leong reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 22, autosomal recessive, 609741; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBB1 Ivone Leong reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 3, multiple types, 601547; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYBA4 Ivone Leong reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 16960806, 20577656 ; Phenotypes: Cataract 17, multiple types, 611544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBA1 Ivone Leong reviewed gene: CRYBA1: Rating: RED; Mode of pathogenicity: ; Publications: 26303524; Phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 10, multiple types, 600881; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYAA Ivone Leong reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17296897, 30340470, 18302245 ; Phenotypes: CATARACT 16, MULTIPLE TYPES, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRIM1 Ivone Leong reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26681494, 25561690; Phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 COL8A2 Ivone Leong reviewed gene: COL8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 COL18A1 Ivone Leong reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546652, 22399687; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, 136800, Corneal dystrophy, posterior polymorphous 2, 609140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CHST6 Ivone Leong reviewed gene: CHST6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 CHRDL1 Ivone Leong reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829; Phenotypes: Macular corneal dystrophy, 217800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 CHMP4B Ivone Leong reviewed gene: CHMP4B: Rating: RED; Mode of pathogenicity: ; Publications: 17701905; Phenotypes: Megalocornea 1, X-linked, 309300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CBS Ivone Leong reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 7611293, 24169224, 21626167, 11774777; Phenotypes: Cataract 31, multiple types, 605387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 BFSP2 Ivone Leong reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 BFSP1 Ivone Leong reviewed gene: BFSP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 12, multiple types, 611597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 ALDH18A1 Ivone Leong reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 21739576; Phenotypes: Cataract 33, 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGPS Ivone Leong reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGK Ivone Leong reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGBL1 Ivone Leong reviewed gene: AGBL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sengers syndrome, 212350, Cataract 38, autosomal recessive, 614691; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ADAMTSL4 Ivone Leong reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20702823, 20141359, 25975359 ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ADAMTS18 Ivone Leong reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 23818446; Phenotypes: Ectopia lentis, isolated, autosomal recessive, 225100, Ectopia lentis et pupillae, 225200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ZNF513 Ivone Leong reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ZNF423 Ivone Leong reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 58, 613617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 XPC Ivone Leong reviewed gene: XPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 19, 614844, Nephronophthisis 14, 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 XPA Ivone Leong reviewed gene: XPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 WT1 Ivone Leong reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 WHRN Ivone Leong reviewed gene: WHRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 WFS1 Ivone Leong reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2D, 611383; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 WDR36 Ivone Leong reviewed gene: WDR36: Rating: RED; Mode of pathogenicity: ; Publications: 17353431, 18172102, 15677485; Phenotypes: Wolfram syndrome, 222300, Wolfram-like syndrome, autosomal dominant, 614296, ?Cataract 41, 116400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 WDPCP Ivone Leong reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, G, 609887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 VCAN Ivone Leong reviewed gene: VCAN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Bardet-Biedl syndrome 15, 615992; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 VAX1 Ivone Leong reviewed gene: VAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10601035, 22095910; Phenotypes: Wagner syndrome 1, 143200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 USH2A Ivone Leong reviewed gene: USH2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, syndromic 11, 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 USH1G Ivone Leong reviewed gene: USH1G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 39, 613809, Usher syndrome type 2A, 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 USH1C Ivone Leong reviewed gene: USH1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1G, 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 UNC119 Ivone Leong reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome type 1C, 276904; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: 10644000; Phenotypes: Cone-rod dystrophy, Immunodeficiency 13, 615518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: 28778995; Phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 TULP1 Ivone Leong reviewed gene: TULP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TTC8 Ivone Leong reviewed gene: TTC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TTC21B Ivone Leong reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 51, 613464, Bardet-Biedl syndrome 8, 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TSPAN12 Ivone Leong reviewed gene: TSPAN12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TRPM1 Ivone Leong reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Exudative vitreoretinopathy 5, 613310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TRIM44 Ivone Leong reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TRIM32 Ivone Leong reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ANIRIDIA 3, 617142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TPP1 Ivone Leong reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 11, 615988, Muscular dystrophy, limb-girdle, type 2H, 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TP53BP2 Ivone Leong reviewed gene: TP53BP2: Rating: RED; Mode of pathogenicity: ; Publications: 28150229, 27447114, ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500; Mode of inheritance:
Structural eye disease v0.38 TOPORS Ivone Leong reviewed gene: TOPORS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TMEM67 Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19058225, 30055837 ; Phenotypes: Retinitis pigmentosa 31, 609923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TMEM237 Ivone Leong reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152675, 30055837 ; Phenotypes: COACH syndrome, 216360, Joubert syndrome 6, 610688, Meckel syndrome 3, 607361, Nephronophthisis 11, 613550, {Bardet-Biedl syndrome 14, modifer of}, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM231 Ivone Leong reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: ; Publications: 23012439, 23349226; Phenotypes: Joubert syndrome 14, 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM216 Ivone Leong reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: 20512146, 30055837; Phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM138 Ivone Leong reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: ; Publications: 22282472; Phenotypes: Joubert syndrome 2, 608091, Meckel syndrome 2, 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 16, 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TIMP3 Ivone Leong reviewed gene: TIMP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy, 612989; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TIMM8A Ivone Leong reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sorsby fundus dystrophy, 136900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 TFAP2A Ivone Leong reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423521, 19685247 ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 TENM3 Ivone Leong reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22766609, 27103084, 24859618, 29753094, 30513139; Phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TCTN3 Ivone Leong reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: 25118024, 29725084; Phenotypes: Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TCTN2 Ivone Leong reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: 21565611, 25118024; Phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TCTN1 Ivone Leong reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: 21725307, 22693042; Phenotypes: Meckel syndrome 8, 613885, Joubert syndrome 24, 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SPINT2 Ivone Leong reviewed gene: SPINT2: Rating: RED; Mode of pathogenicity: ; Publications: 29575628, 24142340, ; Phenotypes: Joubert syndrome 13, 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SPATA7 Ivone Leong reviewed gene: SPATA7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SNRNP200 Ivone Leong reviewed gene: SNRNP200: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 3, 604232, Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 33, 610359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, 606574, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SLC24A1 Ivone Leong reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SIX3 Ivone Leong reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454, 10369266, 21940735; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 2, 157170; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 SDCCAG8 Ivone Leong reviewed gene: SDCCAG8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 35, 610282, Cone-rod dystrophy 10, 610283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SALL2 Ivone Leong reviewed gene: SALL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24412933; Phenotypes: Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SAG Ivone Leong reviewed gene: SAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coloboma, ocular, autosomal recessive, 216820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RS1 Ivone Leong reviewed gene: RS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 RPGRIP1 Ivone Leong reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoschisis, 312700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RPGR Ivone Leong reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 RPE65 Ivone Leong reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RP9 Ivone Leong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Leber congenital amaurosis 2, 204100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RP2 Ivone Leong reviewed gene: RP2: Rating: RED; Mode of pathogenicity: ; Publications: 21738648; Phenotypes: ?Retinitis pigmentosa 9, 180104; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 RP1 Ivone Leong reviewed gene: RP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 2, 312600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ROM1 Ivone Leong reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 1, 180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RLBP1 Ivone Leong reviewed gene: RLBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 7, digenic, 608133; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RIMS1 Ivone Leong reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28677725; Phenotypes: Bothnia retinal dystrophy, Newfoundland rod-cone dystrophy, Fundus albipunctatus, 607475, 607476, 136880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RHO Ivone Leong reviewed gene: RHO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 7, 603649; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RGS9BP Ivone Leong reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, 613731, Night blindness, congenital stationary, autosomal dominant 1, 610445, Fundus albipunctatus, 136880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RGS9 Ivone Leong reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RGR Ivone Leong reviewed gene: RGR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RDH5 Ivone Leong reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 44, 613769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RDH12 Ivone Leong reviewed gene: RDH12: Rating: RED; Mode of pathogenicity: ; Publications: 25148430, 22065924; Phenotypes: Fundus albipunctatus, 136880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RD3 Ivone Leong reviewed gene: RD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 13, 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RBP3 Ivone Leong reviewed gene: RBP3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Leber congenital amaurosis 12, 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RAX2 Ivone Leong reviewed gene: RAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Retinitis pigmentosa 66, 615233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPH2 Ivone Leong reviewed gene: PRPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PRPF8 Ivone Leong reviewed gene: PRPF8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis punctata albescens, 136880, Macular dystrophy, patterned, 1, 169150, Leber congenital amaurosis 18, 608133, Macular dystrophy, vitelliform, 3, 608161, Choriodal dystrophy, central areolar 2, 613105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF6 Ivone Leong reviewed gene: PRPF6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 13, 600059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF31 Ivone Leong reviewed gene: PRPF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 60, 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF3 Ivone Leong reviewed gene: PRPF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 11, 600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PROM1 Ivone Leong reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 18, 601414; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PRCD Ivone Leong reviewed gene: PRCD: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PPT1 Ivone Leong reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 36, 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 POLH Ivone Leong reviewed gene: POLH: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PLA2G5 Ivone Leong reviewed gene: PLA2G5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PITX3 Ivone Leong reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20033184, 29405783, 9620774; Phenotypes: [Fleck retina, familial benign], 228980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PITPNM3 Ivone Leong reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Anterior segment mesenchymal dysgenesis, 107250, Cataract 11, multiple types, 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PHYH Ivone Leong reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 5, 600977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PEX7 Ivone Leong reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Refsum disease, 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDZD7 Ivone Leong reviewed gene: PDZD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6H Ivone Leong reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6G Ivone Leong reviewed gene: PDE6G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia 6, 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6C Ivone Leong reviewed gene: PDE6C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 57, 613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6B Ivone Leong reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone dystrophy 4, 613093; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6A Ivone Leong reviewed gene: PDE6A: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PCDH15 Ivone Leong reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 43, 613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 OPTN Ivone Leong reviewed gene: OPTN: Rating: RED; Mode of pathogenicity: ; Publications: 11834836; Phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 OFD1 Ivone Leong reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28173652; Phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 OAT Ivone Leong reviewed gene: OAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, brown oculocutaneous, 203200, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NYX Ivone Leong reviewed gene: NYX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, 258870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 NTF4 Ivone Leong reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, 310500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 NRL Ivone Leong reviewed gene: NRL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, O, 613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 NR2E3 Ivone Leong reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 27, 613750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP4 Ivone Leong reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 37, 611131, Enhanced S-cone syndrome, 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP3 Ivone Leong reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP1 Ivone Leong reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NDP Ivone Leong reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26130484, 29617172, 29321361, 17334993; Phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 NAA10 Ivone Leong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24431331, 30842225; Phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.38 MYO7A Ivone Leong reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, syndromic 1, 309800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 MTTP Ivone Leong reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1B, 276900, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, 601317 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MPLKIP Ivone Leong reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: 21959366; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MKS1 Ivone Leong reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: ; Publications: 23454480; Phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MKKS Ivone Leong reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MIR204 Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: 26056285; Phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 MFSD8 Ivone Leong reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MFN2 Ivone Leong reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MERTK Ivone Leong reviewed gene: MERTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MAK Ivone Leong reviewed gene: MAK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 38, 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LZTFL1 Ivone Leong reviewed gene: LZTFL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 62, 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRP5 Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29131652, 28111184, 20034086; Phenotypes: Bardet-Biedl syndrome 17, 615994; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRIT3 Ivone Leong reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRAT Ivone Leong reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 14, 613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LCA5 Ivone Leong reviewed gene: LCA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 5, 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KLHL7 Ivone Leong reviewed gene: KLHL7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 42, 612943; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 KIF7 Ivone Leong reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: 21633164; Phenotypes: Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCTD7 Ivone Leong reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCNV2 Ivone Leong reviewed gene: KCNV2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 3B, 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCNJ13 Ivone Leong reviewed gene: KCNJ13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 16, 614186, Snowflake vitreoretinal degeneration, 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 IQCB1 Ivone Leong reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 INVS Ivone Leong reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 2, infantile, 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 INPP5E Ivone Leong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 23386033, 30055837, 23022135; Phenotypes: Joubert syndrome 1, 213300, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 IMPG2 Ivone Leong reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 56, 613581, Macular dystrophy, vitelliform, 5, 616152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 IMPDH1 Ivone Leong reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 10, 180105, Leber congenital amaurosis 11, 613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 IDH3B Ivone Leong reviewed gene: IDH3B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 HMGB3 Ivone Leong reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: ?Microphthalmia, syndromic 13, 300915; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.38 HDAC6 Ivone Leong reviewed gene: HDAC6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20181727; Phenotypes: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 HARS Ivone Leong reviewed gene: HARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome type 3B, 614504, Charcot-Marie-Tooth disease, axonal, type 2W, 616625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 GUCY2D Ivone Leong reviewed gene: GUCY2D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 1, 204000, Cone-rod dystrophy 6, 601777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 GUCA1B Ivone Leong reviewed gene: GUCA1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 48, 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 GUCA1A Ivone Leong reviewed gene: GUCA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone dystrophy-3, 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 GTF2H5 Ivone Leong reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GRN Ivone Leong reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GRM6 Ivone Leong reviewed gene: GRM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GPR179 Ivone Leong reviewed gene: GPR179: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GPR143 Ivone Leong reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Nettleship-Falls type, 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 GNAT2 Ivone Leong reviewed gene: GNAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia-4,613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GNAT1 Ivone Leong reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, 610444, ?Night blindness, congenital stationary, type 1G, 616389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GDF6 Ivone Leong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Microphthalmia, isolated 4, 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 GDF3 Ivone Leong reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19864492; Phenotypes: Klippel-Feil Syndrome3, 613702, Microphthalmia with coloboma 6, 613703, Microphthalmia, isolated 7, 613704; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FZD4 Ivone Leong reviewed gene: FZD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413837, 30882657; Phenotypes: Exudative vitreoretinopathy 1, 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FSCN2 Ivone Leong reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 30, 607921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FLVCR1 Ivone Leong reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, 609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 FAM161A Ivone Leong reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 EYS Ivone Leong reviewed gene: EYS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 25, 602772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC8 Ivone Leong reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, type A, 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ERCC6 Ivone Leong reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, 214150, Macular degeneration, age-related, susceptibility to 5, 613761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC5 Ivone Leong reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780, Cerebrooculofacioskeletal syndrome 3, 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC4 Ivone Leong reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC3 Ivone Leong reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC2 Ivone Leong reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC1 Ivone Leong reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17273966; Phenotypes: Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ELP4 Ivone Leong reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376, 29217025; Phenotypes: ANIRIDIA 2, 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ELOVL4 Ivone Leong reviewed gene: ELOVL4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stargardt disease 3, 600110; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 EFEMP1 Ivone Leong reviewed gene: EFEMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Doyne honeycomb degeneration of retina, 126600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 DHDDS Ivone Leong reviewed gene: DHDDS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 59, 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 DDB2 Ivone Leong reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 DDB1 Ivone Leong reviewed gene: DDB1: Rating: RED; Mode of pathogenicity: ; Publications: 17129780; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.38 CYP4V2 Ivone Leong reviewed gene: CYP4V2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bietti crystalline corneoretinal dystrophy, 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CYP27A1 Ivone Leong reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBROTENDINOUS XANTHOMATOSIS, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CTSD Ivone Leong reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CRX Ivone Leong reviewed gene: CRX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod retinal dystrophy-2, 120970, Leber congenital amaurosis 7, 613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 CRB1 Ivone Leong reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21484995, 23077403; Phenotypes: Leber congenital amaurosis 8, 613835, Retinitis pigmentosa-12, autosomal recessive, 600105, Pigmented paravenous chorioretinal atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: STICKLER SYNDROME, TYPE V, 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type IV, 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18541977, 17347327; Phenotypes: Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, 108300, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, 156550, SED congenita, Stickler sydrome, type I, nonsyndromic ocular, 609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 COL11A2 Ivone Leong reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type II, 604841, Marshall syndrome, 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 CNNM4 Ivone Leong reviewed gene: CNNM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 27419834; Phenotypes: Jalili syndrome, 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGB3 Ivone Leong reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macular degeneration, juvenile, 248200, Achromatopsia-3, 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGB1 Ivone Leong reviewed gene: CNGB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 45, 613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGA3 Ivone Leong reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: ; Publications: 24504161; Phenotypes: Achromatopsia-2, 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGA1 Ivone Leong reviewed gene: CNGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 49, 613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLRN1 Ivone Leong reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 3A, 276902, Retinitis pigmentosa 61, 614180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CLN8 Ivone Leong reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN6 Ivone Leong reviewed gene: CLN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN5 Ivone Leong reviewed gene: CLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN3 Ivone Leong reviewed gene: CLN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CIB2 Ivone Leong reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IJ, 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CHM Ivone Leong reviewed gene: CHM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Choroideremia, 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 CERKL Ivone Leong reviewed gene: CERKL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 26, 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CEP41 Ivone Leong reviewed gene: CEP41: Rating: RED; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: Joubert syndrome 15, 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CEP290 Ivone Leong reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 30055837, 22355252; Phenotypes: Joubert syndrome 5, 610188, Senior-Loken syndrome 6, 610189, Meckel syndrome 4, 611134, Leber congenital amaurosis 10, 611755, ?Bardet-Biedl syndrome 14, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CDHR1 Ivone Leong reviewed gene: CDHR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 15, 613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CDH3 Ivone Leong reviewed gene: CDH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CDH23 Ivone Leong reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1D, 601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CACNA2D4 Ivone Leong reviewed gene: CACNA2D4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 4, 610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CACNA1F Ivone Leong reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071, Cone-rod dystropy, X-linked, 3, 300476, Aland Island eye disease, 300600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 CABP4 Ivone Leong reviewed gene: CABP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CA4 Ivone Leong reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 17, 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 C8orf37 Ivone Leong reviewed gene: C8orf37: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 16, 614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C5orf42 Ivone Leong reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: ; Publications: 24178751; Phenotypes: Joubert syndrome 17, 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C2orf71 Ivone Leong reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 54, 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 C1QTNF5 Ivone Leong reviewed gene: C1QTNF5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal degeneration, late-onset, autosomal dominant, 605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BMPR1A Ivone Leong reviewed gene: BMPR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29522511; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 BMP7 Ivone Leong reviewed gene: BMP7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20506283, 7590254; Phenotypes: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BEST1 Ivone Leong reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15452077, 21473666 ; Phenotypes: Vitelliform Macular degeneration 2, 153700, Microcornea, rod-cone dystrophy, cataract, and posterior, staphyloma, Bestrophinopathy, autosomal recessive, 611809, Retinitis pigmentosa, concentric, 613194, 193220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BBS9 Ivone Leong reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome9, 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS7 Ivone Leong reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome7, 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS5 Ivone Leong reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome5, 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS4 Ivone Leong reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome4, 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS2 Ivone Leong reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome2, 615981, Retinitis pigmentosa 74, 616562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS12 Ivone Leong reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome12, 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS10 Ivone Leong reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome10, 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS1 Ivone Leong reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome1, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 B3GLCT Ivone Leong reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909395, 18798333, 19796186; Phenotypes: Peters-plus syndrome 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ATP13A2 Ivone Leong reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: KUFOR-RAKEB SYNDROME, 606693, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ATOH7 Ivone Leong reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 1838, 8779, 22068589, 11493566 ; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ASB10 Ivone Leong reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, F, 603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ARL6 Ivone Leong reviewed gene: ARL6: Rating: RED; Mode of pathogenicity: ; Publications: 19097054; Phenotypes: Retinitis pigmentosa 55, 613575, Bardet-Biedl syndrome 3, 600151, {Bardet-Biedl syndrome 1, modifier of} 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ARL13B Ivone Leong reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: ; Publications: 18674751, 25138100; Phenotypes: Joubert syndrome 8 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ALMS1 Ivone Leong reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alstrom syndrome 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 AIPL1 Ivone Leong reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25148430; Phenotypes: Cone-rod dystrophy, Leber congenital amaurosis 4, 604393, Retinitis pigmentosa, juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 AHI1 Ivone Leong reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 3, 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADGRV1 Ivone Leong reviewed gene: ADGRV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2C, 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ADAM9 Ivone Leong reviewed gene: ADAM9: Rating: RED; Mode of pathogenicity: ; Publications: 25091951; Phenotypes: Cone-rod dystrophy 9, 612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ABHD12 Ivone Leong reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ABCB6 Ivone Leong reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 ABCA4 Ivone Leong reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200, {Macular degeneration, age-related, 2}, 153800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TUBGCP4 Ivone Leong reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SBF2 Ivone Leong reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RBP4 Ivone Leong reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888420, 27892788, 25910211 ; Phenotypes: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PIGL Ivone Leong reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MAF Ivone Leong reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12642301, 17982426; Phenotypes: Cataract 21, multiple types 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 LRP2 Ivone Leong reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 8266995, 18553518; Phenotypes: Donnai-Barrow syndrome, 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 IGBP1 Ivone Leong reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.38 HMX1 Ivone Leong reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 21417677, 25574057, 29140751; Phenotypes: Oculoauricular syndrome 612109; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 GJA1 Ivone Leong reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 21273537, 25976645, 15637728, 24508941, 30628995; Phenotypes: Oculodentodigital dysplasia, open angle glaucoma (OAG) and microcornea; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 DDX58 Ivone Leong reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: ; Publications: 25620203, 30574673; Phenotypes: Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 YAP1 Ivone Leong reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24462371, 27267789, 28801591 ; Phenotypes: isolated ocular coloboma, Coloboma, ocular, 120433, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 VSX2 Ivone Leong reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10932181, 20414678 ; Phenotypes: Microphthalmia with coloboma 3, 610092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TMEM98 Ivone Leong reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26392740, 24852644; Phenotypes: NNO4 Nanophthalmos 4, 615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 TBC1D20 Ivone Leong reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 STRA6 Ivone Leong reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273977, 24859618; Phenotypes: Syndromic Microphthalmia, Recessive, Microphthalmia, isolated, with coloboma 8, 601186, Microphthalmia, syndromic 9, 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SOX2 Ivone Leong reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12612584, 24859618; Phenotypes: Microphthalmia, syndromic 3 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 SMOC1 Ivone Leong reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SMO Ivone Leong reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 SIX6 Ivone Leong reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23167593, 24702266, 29450879, 15266624; Phenotypes: Microphthalmia with cataract 2, 212550, Optic disc anomalies with retinal and/or macular dystrophy, 212550, Anophthalmia/Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change; Current diagnostic: yes
Structural eye disease v0.38 SHH Ivone Leong reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 20425842; Phenotypes: Holoprosencephaly-3, 142945, Microphthalmia with coloboma 5, 611638, Single median maxillary central incisor, 147250, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 SALL4 Ivone Leong reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12843316, 6426304; Phenotypes: Duane-radial ray syndrome, 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 RPGRIP1L Ivone Leong reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAX Ivone Leong reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662654, 18783408, 24033328; Phenotypes: Anophthalmia/Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RARB Ivone Leong reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 12, 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB3GAP2 Ivone Leong reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23420520; Phenotypes: Martsolf syndrome, 212720, Warburg micro syndrome 2, 614225, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB3GAP1 Ivone Leong reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 1, 600118, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB18 Ivone Leong reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 3, 614222, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PUF60 Ivone Leong reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19464398, 24140112, 27804958, 28327570; Phenotypes: Verheij syndrome, 615583, VRJS, ocular abnormalities, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PRSS56 Ivone Leong reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 6, 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PORCN Ivone Leong reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030, 24859618; Phenotypes: Focal dermal hypoplasia 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.38 PITX2 Ivone Leong reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9685346, 9618168, 10051017, 8944018, 18723525, 11487566; Phenotypes: Anterior segment dysgenesis 4 137600, Axenfeld-Rieger syndrome, type 1 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12552561, 11826019, 11553050, 17406642, 7666404, 17595013, 8111379, 7550230, 7951315, 9931324, 1302030, 19876904, 17148041; Phenotypes: Anophthalmia, Gillespie syndrome, 206700, Cataract with late-onset corneal dystrohpy, 106210, ?Morning glory disc anomaly, 120430, Aniridia, 106210, Peters anomaly, 604229, Coloboma of optic nerve, 120430, Aniridia 106210, Foveal hypoplasia 1, 136520, Keratitis, 148190, Optic nerve hypoplasia, 165550, Coloboma, ocular, 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PAX2 Ivone Leong reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 8589702, 22213154, 10533062; Phenotypes: Papillorenal syndrome 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 OTX2 Ivone Leong reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15846561, 18781617, 24859618; Phenotypes: OTX2-Related Syndromic Microphthalmia, severe, bilateral cases, Microphthalmia, syndromic 5, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 MYOC Ivone Leong reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9535666, 12522550, 9345106, 9328473, 9005853, 9697688, 10330365; Phenotypes: Glaucoma 1A, primary open angle, 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 MFRP Ivone Leong reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 5, 611040, Isolated Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MAB21L2 Ivone Leong reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24906020, 25719200; Phenotypes: Microphthalmia, syndromic 14, 615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 LTBP2 Ivone Leong reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19656777, 19361779, 21081970, 20179738; Phenotypes: Glaucoma 3, primary congenital, D 613086, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 HCCS Ivone Leong reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964, 24859618; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801, Microphthalmia, syndromic 7, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.38 GRIP1 Ivone Leong reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22510445; Phenotypes: FRASER SYNDROME 3 617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FREM2 Ivone Leong reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507; Phenotypes: FRASER SYNDROME 2 617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FREM1 Ivone Leong reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21507892; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME 248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FRAS1 Ivone Leong reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12766769; Phenotypes: FRASER SYNDROME 1 219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FOXE3 Ivone Leong reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 11159941, 21150893, 27218149, 16826526, 20361012, 24859618, 19708017; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes 610256, Anterior segment mesenchymal dysgenesis 107250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FOXD3 Ivone Leong reviewed gene: FOXD3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22815627; Phenotypes: aniridia, Peters anomaly, Anterior segment dysgenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FOXC1 Ivone Leong reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9620769, 10713890, 12036988, 17210863, 12614756, 11007653; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes 601631, Axenfeld-Rieger syndrome, type 3 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 CYP1B1 Ivone Leong reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9463332, 9097971, 9497261, 12372064; Phenotypes: Glaucoma 3, Primary Congenital, A, GLC3A, 231300, Peters anomaly, 604229, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, primary congenital glaucoma, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 COL4A1 Ivone Leong reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24628545, 30181649; Phenotypes: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 CLDN19 Ivone Leong reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033971, 500385; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CHD7 Ivone Leong reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 16400610; Phenotypes: CHARGE syndrome, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C12orf57 Ivone Leong reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453665 24859618; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BMP4 Ivone Leong reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: 18252212, 2427285; Phenotypes: Orofacial cleft 11, 600625, BMP4-Related Syndromic Microphthalmia, Microphthalmia, syndromic 6, 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 BCOR Ivone Leong reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15004558, 17517692, 29974297; Phenotypes: Microphthalmia, syndromic 2, 300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Structural eye disease v0.38 ALDH1A3 Ivone Leong reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859610, 23591992; Phenotypes: Microphthalmia, isolated 8 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADAMTS17 Ivone Leong reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19836009; Phenotypes: Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADAMTS10 Ivone Leong reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18567016, 19836009, 15368195; Phenotypes: Weill-Marchesani syndrome 1, recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ACTG1 Ivone Leong reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22366783; Phenotypes: Baraitser-Winter syndrome 2, 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 ACTB Ivone Leong reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 2505231; Phenotypes: Baraitser-Winter syndrome 1, 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.37 WDR36 Ivone Leong Phenotypes for gene: WDR36 were changed from Glaucoma 1, open angle, G 609887; Glaucoma 1, open angle, G, 609887 to Glaucoma 1, open angle, G 609887
Structural eye disease v0.36 SIX3 Ivone Leong Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 157170; Holoprosencephaly 2, 157170 to Holoprosencephaly 2 157170
Structural eye disease v0.35 SALL2 Ivone Leong Phenotypes for gene: SALL2 were changed from Coloboma, ocular, autosomal recessive, 216820; Coloboma, ocular, autosomal recessive 216820 to Coloboma, ocular, autosomal recessive, 216820
Structural eye disease v0.34 OPTN Ivone Leong Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.33 NTF4 Ivone Leong Phenotypes for gene: NTF4 were changed from Glaucoma 1, open angle, 1O, 613100; GLAUCOMA 1, OPEN ANGLE, O, 613100 to Glaucoma 1, open angle, 1O, 613100
Structural eye disease v0.32 NAA10 Ivone Leong Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, 309800; Microphthalmia, syndromic 1, 309800 to Microphthalmia, syndromic 1, 309800
Structural eye disease v0.31 MIR204 Ivone Leong Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722; RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 to Retinal dystrophy and iris coloboma with or without cataract 616722
Structural eye disease v0.30 HMGB3 Ivone Leong Phenotypes for gene: HMGB3 were changed from ?Microphthalmia, syndromic 13, 300915; Microphthalmia, syndromic 13, 300915 to ?Microphthalmia, syndromic 13, 300915
Structural eye disease v0.29 HDAC6 Ivone Leong Phenotypes for gene: HDAC6 were changed from Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863; CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Structural eye disease v0.28 ERCC6 Ivone Leong Phenotypes for gene: ERCC6 were changed from Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Macular degeneration, age-related, susceptibility to 5, 613761 to Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; {Macular degeneration, age-related, susceptibility to 5}, 613761; UV-sensitive syndrome 1, 600630; {Lung cancer, susceptibility to}, 211980
Structural eye disease v0.27 ERCC2 Ivone Leong Phenotypes for gene: ERCC2 were changed from TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 to TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675; Cerebrooculofacioskeletal syndrome 2, 610756
Structural eye disease v0.26 ASB10 Ivone Leong Phenotypes for gene: ASB10 were changed from Glaucoma 1, open angle, F, 603383; GLAUCOMA 1, OPEN ANGLE, F, 603383 to Glaucoma 1, open angle, F, 603383
Structural eye disease v0.25 ARL13B Ivone Leong Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291; Joubert syndrome 8 to Joubert syndrome 8 612291
Structural eye disease v0.24 AHI1 Ivone Leong Phenotypes for gene: AHI1 were changed from Joubert syndrome-3; Joubert syndrome 3, 608629 to Joubert syndrome 3, 608629
Structural eye disease v0.23 ABCB6 Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Microphthalmia, isolated, with coloboma 7 614497; Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402
Structural eye disease v0.22 TMEM98 Ivone Leong Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972; NNO4; Nanophthalmos 4, 615972 to NNO4 Nanophthalmos 4, 615972
Structural eye disease v0.21 TMEM67 Ivone Leong Phenotypes for gene: TMEM67 were changed from COACH syndrome, 216360; Joubert syndrome 6, 610688; Joubert syndrome 6; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550 to COACH syndrome, 216360; Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550
Structural eye disease v0.20 TENM3 Ivone Leong Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, isolated, with coloboma 9, 615145 to Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.19 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 to Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700
Structural eye disease v0.18 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991 to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991
Structural eye disease v0.17 ACTG1 Ivone Leong Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome 2, 614583; Baraitser-Winter syndrome 2, 614583 to Baraitser-Winter syndrome 2, 614583
Structural eye disease v0.16 ACTB Ivone Leong Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, 243310; Baraitser-Winter syndrome 1, 243310 to Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.15 ZNF513 Ivone Leong Source NHS GMS was added to ZNF513.
Mode of inheritance for gene ZNF513 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 58, 613617 for gene: ZNF513
Structural eye disease v0.15 ZNF423 Ivone Leong Source NHS GMS was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 14, 614844; Joubert syndrome 19, 614844 for gene: ZNF423
Structural eye disease v0.15 XPC Ivone Leong Source NHS GMS was added to XPC.
Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 for gene: XPC
Structural eye disease v0.15 XPA Ivone Leong Source NHS GMS was added to XPA.
Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700 for gene: XPA
Structural eye disease v0.15 WT1 Ivone Leong Source NHS GMS was added to WT1.
Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072 for gene: WT1
Structural eye disease v0.15 WHRN Ivone Leong Source NHS GMS was added to WHRN.
Mode of inheritance for gene WHRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 2D, 611383 for gene: WHRN
Structural eye disease v0.15 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; ?Cataract 41, 116400 for gene: WFS1
Structural eye disease v0.15 WDR36 Ivone Leong Source NHS GMS was added to WDR36.
Mode of inheritance for gene WDR36 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glaucoma 1, open angle, G, 609887 for gene: WDR36
Structural eye disease v0.15 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Mode of inheritance for gene WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP
Structural eye disease v0.15 VCAN Ivone Leong Source NHS GMS was added to VCAN.
Mode of inheritance for gene VCAN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Wagner syndrome 1, 143200 for gene: VCAN
Structural eye disease v0.15 VAX1 Ivone Leong Source NHS GMS was added to VAX1.
Mode of inheritance for gene VAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia, syndromic 11, 614402 for gene: VAX1
Publications for gene VAX1 were changed from to 10601035; 22095910
Structural eye disease v0.15 USH2A Ivone Leong Source NHS GMS was added to USH2A.
Mode of inheritance for gene USH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome type 2A, 276901; Retinitis pigmentosa 39, 613809 for gene: USH2A
Structural eye disease v0.15 USH1G Ivone Leong Source NHS GMS was added to USH1G.
Mode of inheritance for gene USH1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1G, 606943 for gene: USH1G
Structural eye disease v0.15 USH1C Ivone Leong Source NHS GMS was added to USH1C.
Mode of inheritance for gene USH1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 18A, 602092; Usher syndrome type 1C, 276904 for gene: USH1C
Structural eye disease v0.15 UNC119 Ivone Leong Source NHS GMS was added to UNC119.
Mode of inheritance for gene UNC119 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy; Immunodeficiency 13, 615518 for gene: UNC119
Structural eye disease v0.15 TYRP1 Ivone Leong Source NHS GMS was added to TYRP1.
Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Publications for gene TYRP1 were changed from to 10644000
Structural eye disease v0.15 TYR Ivone Leong Source NHS GMS was added to TYR.
Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} for gene: TYR
Publications for gene TYR were changed from to 28778995
Structural eye disease v0.15 TULP1 Ivone Leong Source NHS GMS was added to TULP1.
Mode of inheritance for gene TULP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 600132; Retinitis pigmentosa 14; Leber congenital amaurosis 15; 613843 for gene: TULP1
Structural eye disease v0.15 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Mode of inheritance for gene TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Structural eye disease v0.15 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819 for gene: TTC21B
Structural eye disease v0.15 TSPAN12 Ivone Leong Source NHS GMS was added to TSPAN12.
Mode of inheritance for gene TSPAN12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Exudative vitreoretinopathy 5, 613310 for gene: TSPAN12
Structural eye disease v0.15 TRPM1 Ivone Leong Source NHS GMS was added to TRPM1.
Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Structural eye disease v0.15 TRIM44 Ivone Leong Source NHS GMS was added to TRIM44.
Added phenotypes ANIRIDIA 3, 617142 for gene: TRIM44
Structural eye disease v0.15 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110 for gene: TRIM32
Structural eye disease v0.15 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 for gene: TPP1
Structural eye disease v0.15 TP53BP2 Ivone Leong Source NHS GMS was added to TP53BP2.
Publications for gene TP53BP2 were changed from 28150229 to 27447114; 28150229
Structural eye disease v0.15 TOPORS Ivone Leong Source NHS GMS was added to TOPORS.
Mode of inheritance for gene TOPORS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 31, 609923 for gene: TOPORS
Structural eye disease v0.15 TMEM67 Ivone Leong Source NHS GMS was added to TMEM67.
Source Expert Review Green was added to TMEM67.
Added phenotypes Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; COACH syndrome, 216360; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550 for gene: TMEM67
Publications for gene TMEM67 were changed from 19058225 to 30055837; 19058225
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TMEM237 Ivone Leong Source NHS GMS was added to TMEM237.
Source Expert Review Amber was added to TMEM237.
Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237
Publications for gene TMEM237 were changed from 22152675 to 30055837; 22152675
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.15 TMEM231 Ivone Leong Source NHS GMS was added to TMEM231.
Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231
Publications for gene TMEM231 were changed from 23012439; 23349226 to 23349226; 23012439
Structural eye disease v0.15 TMEM216 Ivone Leong Source NHS GMS was added to TMEM216.
Source Expert Review Amber was added to TMEM216.
Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216
Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.15 TMEM138 Ivone Leong Source NHS GMS was added to TMEM138.
Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138
Structural eye disease v0.15 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Mode of inheritance for gene TMEM126A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy, 612989 for gene: TMEM126A
Structural eye disease v0.15 TIMP3 Ivone Leong Source NHS GMS was added to TIMP3.
Mode of inheritance for gene TIMP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Sorsby fundus dystrophy, 136900 for gene: TIMP3
Structural eye disease v0.15 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Structural eye disease v0.15 TFAP2A Ivone Leong Source NHS GMS was added to TFAP2A.
Source Expert Review Green was added to TFAP2A.
Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A
Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TENM3 Ivone Leong Source NHS GMS was added to TENM3.
Source Expert Review Green was added to TENM3.
Added phenotypes Microphthalmia, isolated, with coloboma 9, 615145 for gene: TENM3
Publications for gene TENM3 were changed from 22766609, 27103084, 24859618 to 30513139; 24859618; 29753094; 27103084; 22766609
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TCTN3 Ivone Leong Source NHS GMS was added to TCTN3.
Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3
Publications for gene TCTN3 were changed from 25118024 to 29725084; 25118024
Structural eye disease v0.15 TCTN2 Ivone Leong Source NHS GMS was added to TCTN2.
Added phenotypes Joubert syndrome 24, 616654; Meckel syndrome 8, 613885 for gene: TCTN2
Structural eye disease v0.15 TCTN1 Ivone Leong Source NHS GMS was added to TCTN1.
Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1
Publications for gene TCTN1 were changed from 21725307; 22693042 to 22693042; 21725307
Structural eye disease v0.15 SPINT2 Ivone Leong Source NHS GMS was added to SPINT2.
Added phenotypes DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420 for gene: SPINT2
Publications for gene SPINT2 were changed from 29575628; 24142340 to 29575628; 24142340,
Structural eye disease v0.15 SPATA7 Ivone Leong Source NHS GMS was added to SPATA7.
Mode of inheritance for gene SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3, 604232 for gene: SPATA7
Structural eye disease v0.15 SNRNP200 Ivone Leong Source NHS GMS was added to SNRNP200.
Mode of inheritance for gene SNRNP200 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 33, 610359 for gene: SNRNP200
Structural eye disease v0.15 SLC45A2 Ivone Leong Source NHS GMS was added to SLC45A2.
Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, black/nonblack hair]; Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2
Structural eye disease v0.15 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Mode of inheritance for gene SLC24A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750 for gene: SLC24A5
Structural eye disease v0.15 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Mode of inheritance for gene SLC24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 for gene: SLC24A1
Structural eye disease v0.15 SIX3 Ivone Leong Source NHS GMS was added to SIX3.
Mode of inheritance for gene SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Holoprosencephaly 2, 157170 for gene: SIX3
Publications for gene SIX3 were changed from 21976454 to 21976454; 21940735; 10369266
Structural eye disease v0.15 SEMA4A Ivone Leong Source NHS GMS was added to SEMA4A.
Mode of inheritance for gene SEMA4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282 for gene: SEMA4A
Structural eye disease v0.15 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Mode of inheritance for gene SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8
Structural eye disease v0.15 SALL2 Ivone Leong Source NHS GMS was added to SALL2.
Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2
Structural eye disease v0.15 SAG Ivone Leong Source NHS GMS was added to SAG.
Mode of inheritance for gene SAG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 47; Oguchi disease-1; 258100; 613758 for gene: SAG
Structural eye disease v0.15 RS1 Ivone Leong Source NHS GMS was added to RS1.
Mode of inheritance for gene RS1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Retinoschisis, 312700 for gene: RS1
Structural eye disease v0.15 RPGRIP1 Ivone Leong Source NHS GMS was added to RPGRIP1.
Mode of inheritance for gene RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826 for gene: RPGRIP1
Structural eye disease v0.15 RPGR Ivone Leong Source NHS GMS was added to RPGR.
Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa 3, 300029 for gene: RPGR
Structural eye disease v0.15 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 2, 204100 for gene: RPE65
Structural eye disease v0.15 RP9 Ivone Leong Source NHS GMS was added to RP9.
Mode of inheritance for gene RP9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes ?Retinitis pigmentosa 9, 180104 for gene: RP9
Structural eye disease v0.15 RP2 Ivone Leong Source NHS GMS was added to RP2.
Mode of inheritance for gene RP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Retinitis pigmentosa 2, 312600 for gene: RP2
Publications for gene RP2 were changed from to 21738648
Structural eye disease v0.15 RP1 Ivone Leong Source NHS GMS was added to RP1.
Mode of inheritance for gene RP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 1, 180100 for gene: RP1
Structural eye disease v0.15 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Mode of inheritance for gene ROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 7, digenic, 608133 for gene: ROM1
Structural eye disease v0.15 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Mode of inheritance for gene RLBP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 136880; Newfoundland rod-cone dystrophy, Fundus albipunctatus; Bothnia retinal dystrophy; 607475; 607476 for gene: RLBP1
Structural eye disease v0.15 RIMS1 Ivone Leong Source NHS GMS was added to RIMS1.
Mode of inheritance for gene RIMS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy 7, 603649 for gene: RIMS1
Publications for gene RIMS1 were changed from to 28677725
Structural eye disease v0.15 RHO Ivone Leong Source NHS GMS was added to RHO.
Mode of inheritance for gene RHO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Fundus albipunctatus, 136880; Night blindness, congenital stationary, autosomal dominant 1, 610445 for gene: RHO
Structural eye disease v0.15 RGS9BP Ivone Leong Source NHS GMS was added to RGS9BP.
Mode of inheritance for gene RGS9BP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bradyopsia, 608415 for gene: RGS9BP
Structural eye disease v0.15 RGS9 Ivone Leong Source NHS GMS was added to RGS9.
Mode of inheritance for gene RGS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bradyopsia, 608415 for gene: RGS9
Structural eye disease v0.15 RGR Ivone Leong Source NHS GMS was added to RGR.
Mode of inheritance for gene RGR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 44, 613769 for gene: RGR
Structural eye disease v0.15 RDH5 Ivone Leong Source NHS GMS was added to RDH5.
Mode of inheritance for gene RDH5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fundus albipunctatus, 136880 for gene: RDH5
Structural eye disease v0.15 RDH12 Ivone Leong Source NHS GMS was added to RDH12.
Mode of inheritance for gene RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 13, 612712 for gene: RDH12
Publications for gene RDH12 were changed from to 25148430; 22065924
Structural eye disease v0.15 RD3 Ivone Leong Source NHS GMS was added to RD3.
Mode of inheritance for gene RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 12, 610612 for gene: RD3
Structural eye disease v0.15 RBP3 Ivone Leong Source NHS GMS was added to RBP3.
Mode of inheritance for gene RBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Retinitis pigmentosa 66, 615233 for gene: RBP3
Structural eye disease v0.15 RAX2 Ivone Leong Source NHS GMS was added to RAX2.
Mode of inheritance for gene RAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Macular degeneration, age-related, 6, 613757; Cone-rod dystrophy 11, 610381 for gene: RAX2
Structural eye disease v0.15 PRPH2 Ivone Leong Source NHS GMS was added to PRPH2.
Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2
Structural eye disease v0.15 PRPF8 Ivone Leong Source NHS GMS was added to PRPF8.
Mode of inheritance for gene PRPF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 13, 600059 for gene: PRPF8
Structural eye disease v0.15 PRPF6 Ivone Leong Source NHS GMS was added to PRPF6.
Mode of inheritance for gene PRPF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 60, 613983 for gene: PRPF6
Structural eye disease v0.15 PRPF31 Ivone Leong Source NHS GMS was added to PRPF31.
Mode of inheritance for gene PRPF31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 11, 600138 for gene: PRPF31
Structural eye disease v0.15 PRPF3 Ivone Leong Source NHS GMS was added to PRPF3.
Mode of inheritance for gene PRPF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 18, 601414 for gene: PRPF3
Structural eye disease v0.15 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Mode of inheritance for gene PROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Cone-rod dystrophy 12, 612657; Retinitis pigmentosa 41, 612095 for gene: PROM1
Structural eye disease v0.15 PRCD Ivone Leong Source NHS GMS was added to PRCD.
Mode of inheritance for gene PRCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 36, 610599 for gene: PRCD
Structural eye disease v0.15 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730 for gene: PPT1
Structural eye disease v0.15 POLH Ivone Leong Source NHS GMS was added to POLH.
Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 for gene: POLH
Structural eye disease v0.15 PLA2G5 Ivone Leong Source NHS GMS was added to PLA2G5.
Mode of inheritance for gene PLA2G5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Fleck retina, familial benign], 228980 for gene: PLA2G5
Structural eye disease v0.15 PITX3 Ivone Leong Source NHS GMS was added to PITX3.
Source Expert Review Green was added to PITX3.
Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623 for gene: PITX3
Publications for gene PITX3 were changed from to 29405783; 9620774; 20033184
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 PITPNM3 Ivone Leong Source NHS GMS was added to PITPNM3.
Mode of inheritance for gene PITPNM3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy 5, 600977 for gene: PITPNM3
Structural eye disease v0.15 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Mode of inheritance for gene PHYH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Refsum disease, 266500 for gene: PHYH
Structural eye disease v0.15 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100 for gene: PEX7
Structural eye disease v0.15 PDZD7 Ivone Leong Source NHS GMS was added to PDZD7.
Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7
Structural eye disease v0.15 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Mode of inheritance for gene PDE6H was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Achromatopsia 6, 610024 for gene: PDE6H
Structural eye disease v0.15 PDE6G Ivone Leong Source NHS GMS was added to PDE6G.
Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 57, 613582 for gene: PDE6G
Structural eye disease v0.15 PDE6C Ivone Leong Source NHS GMS was added to PDE6C.
Mode of inheritance for gene PDE6C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone dystrophy 4, 613093 for gene: PDE6C
Structural eye disease v0.15 PDE6B Ivone Leong Source NHS GMS was added to PDE6B.
Mode of inheritance for gene PDE6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa-40; 163500; Night blindness, congenital stationary, autosomal dominant 2; 613801 for gene: PDE6B
Structural eye disease v0.15 PDE6A Ivone Leong Source NHS GMS was added to PDE6A.
Mode of inheritance for gene PDE6A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 43, 613810 for gene: PDE6A
Structural eye disease v0.15 PCDH15 Ivone Leong Source NHS GMS was added to PCDH15.
Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 23, 609533 for gene: PCDH15
Structural eye disease v0.15 OPTN Ivone Leong Source NHS GMS was added to OPTN.
Mode of inheritance for gene OPTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glaucoma 1, open angle, E, 137760 for gene: OPTN
Structural eye disease v0.15 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Mode of inheritance for gene OPA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Optic atrophy 3 with cataract, 165300 for gene: OPA3
Structural eye disease v0.15 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; Behr syndrome for gene: OPA1
Structural eye disease v0.15 OFD1 Ivone Leong Source NHS GMS was added to OFD1.
Mode of inheritance for gene OFD1 was changed from Other - please specifiy in evaluation comments to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804 for gene: OFD1
Publications for gene OFD1 were changed from 22353940; 19800048 to 28173652
Structural eye disease v0.15 OCA2 Ivone Leong Source NHS GMS was added to OCA2.
Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Albinism, brown oculocutaneous, 203200; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 for gene: OCA2
Structural eye disease v0.15 OAT Ivone Leong Source NHS GMS was added to OAT.
Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Structural eye disease v0.15 NYX Ivone Leong Source NHS GMS was added to NYX.
Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 for gene: NYX
Structural eye disease v0.15 NTF4 Ivone Leong Source NHS GMS was added to NTF4.
Mode of inheritance for gene NTF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes GLAUCOMA 1, OPEN ANGLE, O, 613100 for gene: NTF4
Structural eye disease v0.15 NRL Ivone Leong Source NHS GMS was added to NRL.
Mode of inheritance for gene NRL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 27, 613750 for gene: NRL
Structural eye disease v0.15 NR2E3 Ivone Leong Source NHS GMS was added to NR2E3.
Mode of inheritance for gene NR2E3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Enhanced S-cone syndrome, 268100; Retinitis pigmentosa 37, 611131 for gene: NR2E3
Structural eye disease v0.15 NPHP4 Ivone Leong Source NHS GMS was added to NPHP4.
Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome, 606996; Nephronophthisis 4, 606966 for gene: NPHP4
Structural eye disease v0.15 NPHP3 Ivone Leong Source NHS GMS was added to NPHP3.
Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604387; Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; 267010; 208540 for gene: NPHP3
Structural eye disease v0.15 NPHP1 Ivone Leong Source NHS GMS was added to NPHP1.
Added phenotypes 609583; 256100; 266900; Joubert syndrome 4; Senior-Loken syndrome-1; Nephronophthisis 1, juvenile for gene: NPHP1
Structural eye disease v0.15 NDP Ivone Leong Source NHS GMS was added to NDP.
Source Expert Review Green was added to NDP.
Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
Publications for gene NDP were changed from to 17334993; 26130484; 29321361; 29617172
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 NAA10 Ivone Leong Source NHS GMS was added to NAA10.
Mode of inheritance for gene NAA10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene NAA10 was changed from to other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 1, 309800 for gene: NAA10
Publications for gene NAA10 were changed from 24431331, 20301694 to 30842225; 24431331
Structural eye disease v0.15 MYO7A Ivone Leong Source NHS GMS was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 2; Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317 for gene: MYO7A
Structural eye disease v0.15 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Abetalipoproteinemia, 200100 for gene: MTTP
Structural eye disease v0.15 MPLKIP Ivone Leong Source NHS GMS was added to MPLKIP.
Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050 for gene: MPLKIP
Publications for gene MPLKIP were changed from to 21959366
Structural eye disease v0.15 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000 for gene: MKS1
Publications for gene MKS1 were changed from to 23454480
Structural eye disease v0.15 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Mode of inheritance for gene MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 6; 605231; McKusick-Kaufman syndrome; 236700 for gene: MKKS
Structural eye disease v0.15 MIR204 Ivone Leong Source NHS GMS was added to MIR204.
Added phenotypes RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 for gene: MIR204
Structural eye disease v0.15 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Mode of inheritance for gene MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951 for gene: MFSD8
Structural eye disease v0.15 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Mode of inheritance for gene MFN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 for gene: MFN2
Structural eye disease v0.15 MERTK Ivone Leong Source NHS GMS was added to MERTK.
Mode of inheritance for gene MERTK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 38, 613862 for gene: MERTK
Structural eye disease v0.15 MAK Ivone Leong Source NHS GMS was added to MAK.
Mode of inheritance for gene MAK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 62, 614181 for gene: MAK
Structural eye disease v0.15 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Structural eye disease v0.15 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Source Expert Review Green was added to LRP5.
Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis, autosomal dominant 1, 607634; Osteoporosis-pseudoglioma syndrome, 259770; van Buchem disease, type 2; Exudative vitreoretinopathy 4, 601813 for gene: LRP5
Publications for gene LRP5 were changed from to 29131652, 28111184, 20034086
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 LRMDA Ivone Leong Source NHS GMS was added to LRMDA.
Mode of inheritance for gene LRMDA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 for gene: LRMDA
Structural eye disease v0.15 LRIT3 Ivone Leong Source NHS GMS was added to LRIT3.
Mode of inheritance for gene LRIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 for gene: LRIT3
Structural eye disease v0.15 LRAT Ivone Leong Source NHS GMS was added to LRAT.
Mode of inheritance for gene LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 14, 613341 for gene: LRAT
Structural eye disease v0.15 LCA5 Ivone Leong Source NHS GMS was added to LCA5.
Mode of inheritance for gene LCA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 5, 604537 for gene: LCA5
Structural eye disease v0.15 KLHL7 Ivone Leong Source NHS GMS was added to KLHL7.
Mode of inheritance for gene KLHL7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 42, 612943 for gene: KLHL7
Structural eye disease v0.15 KIF7 Ivone Leong Source NHS GMS was added to KIF7.
Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7
Structural eye disease v0.15 KCTD7 Ivone Leong Source NHS GMS was added to KCTD7.
Mode of inheritance for gene KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726 for gene: KCTD7
Structural eye disease v0.15 KCNV2 Ivone Leong Source NHS GMS was added to KCNV2.
Mode of inheritance for gene KCNV2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinal cone dystrophy 3B, 610356 for gene: KCNV2
Structural eye disease v0.15 KCNJ13 Ivone Leong Source NHS GMS was added to KCNJ13.
Mode of inheritance for gene KCNJ13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230 for gene: KCNJ13
Structural eye disease v0.15 IQCB1 Ivone Leong Source NHS GMS was added to IQCB1.
Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254 for gene: IQCB1
Structural eye disease v0.15 INVS Ivone Leong Source NHS GMS was added to INVS.
Mode of inheritance for gene INVS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
Structural eye disease v0.15 INPP5E Ivone Leong Source NHS GMS was added to INPP5E.
Source Expert Review Green was added to INPP5E.
Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E
Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 IMPG2 Ivone Leong Source NHS GMS was added to IMPG2.
Mode of inheritance for gene IMPG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 56, 613581; Macular dystrophy, vitelliform, 5, 616152 for gene: IMPG2
Structural eye disease v0.15 IMPDH1 Ivone Leong Source NHS GMS was added to IMPDH1.
Mode of inheritance for gene IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Leber congenital amaurosis 11, 613837; Retinitis pigmentosa 10, 180105 for gene: IMPDH1
Structural eye disease v0.15 IDH3B Ivone Leong Source NHS GMS was added to IDH3B.
Mode of inheritance for gene IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 46, 612572 for gene: IDH3B
Structural eye disease v0.15 HMGB3 Ivone Leong Source NHS GMS was added to HMGB3.
Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3
Publications for gene HMGB3 were changed from 4998085 to 24993872
Structural eye disease v0.15 HDAC6 Ivone Leong Source NHS GMS was added to HDAC6.
Mode of inheritance for gene HDAC6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene HDAC6 was changed from to other - please provide details in the comments
Added phenotypes CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 for gene: HDAC6
Publications for gene HDAC6 were changed from to 20181727
Structural eye disease v0.15 HARS Ivone Leong Source NHS GMS was added to HARS.
Mode of inheritance for gene HARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Usher syndrome type 3B, 614504; Charcot-Marie-Tooth disease, axonal, type 2W, 616625 for gene: HARS
Structural eye disease v0.15 GUCY2D Ivone Leong Source NHS GMS was added to GUCY2D.
Mode of inheritance for gene GUCY2D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 6, 601777; Leber congenital amaurosis 1, 204000 for gene: GUCY2D
Structural eye disease v0.15 GUCA1B Ivone Leong Source NHS GMS was added to GUCA1B.
Mode of inheritance for gene GUCA1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 48, 613827 for gene: GUCA1B
Structural eye disease v0.15 GUCA1A Ivone Leong Source NHS GMS was added to GUCA1A.
Mode of inheritance for gene GUCA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone dystrophy-3, 602093 for gene: GUCA1A
Structural eye disease v0.15 GTF2H5 Ivone Leong Source NHS GMS was added to GTF2H5.
Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395 for gene: GTF2H5
Structural eye disease v0.15 GRN Ivone Leong Source NHS GMS was added to GRN.
Mode of inheritance for gene GRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706 for gene: GRN
Structural eye disease v0.15 GRM6 Ivone Leong Source NHS GMS was added to GRM6.
Mode of inheritance for gene GRM6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6
Structural eye disease v0.15 GPR179 Ivone Leong Source NHS GMS was added to GPR179.
Mode of inheritance for gene GPR179 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179
Structural eye disease v0.15 GPR143 Ivone Leong Source NHS GMS was added to GPR143.
Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143
Structural eye disease v0.15 GNAT2 Ivone Leong Source NHS GMS was added to GNAT2.
Mode of inheritance for gene GNAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-4,613856 for gene: GNAT2
Structural eye disease v0.15 GNAT1 Ivone Leong Source NHS GMS was added to GNAT1.
Mode of inheritance for gene GNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Night blindness, congenital stationary, type 1G, 616389; Night blindness, congenital stationary, autosomal dominant 3, 610444 for gene: GNAT1
Structural eye disease v0.15 GDF6 Ivone Leong Source NHS GMS was added to GDF6.
Source Expert Review Green was added to GDF6.
Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6
Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 GDF3 Ivone Leong Source NHS GMS was added to GDF3.
Mode of inheritance for gene GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GDF3 was changed from to other - please provide details in the comments
Added phenotypes Klippel-Feil Syndrome3, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 for gene: GDF3
Publications for gene GDF3 were changed from to 19864492
Structural eye disease v0.15 FZD4 Ivone Leong Source NHS GMS was added to FZD4.
Mode of inheritance for gene FZD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Exudative vitreoretinopathy 1, 133780 for gene: FZD4
Publications for gene FZD4 were changed from to 30882657; 28413837
Structural eye disease v0.15 FSCN2 Ivone Leong Source NHS GMS was added to FSCN2.
Mode of inheritance for gene FSCN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 30, 607921 for gene: FSCN2
Structural eye disease v0.15 FLVCR1 Ivone Leong Source NHS GMS was added to FLVCR1.
Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Structural eye disease v0.15 FAM161A Ivone Leong Source NHS GMS was added to FAM161A.
Mode of inheritance for gene FAM161A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 28, 606068 for gene: FAM161A
Structural eye disease v0.15 EYS Ivone Leong Source NHS GMS was added to EYS.
Mode of inheritance for gene EYS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 25, 602772 for gene: EYS
Structural eye disease v0.15 ERCC8 Ivone Leong Source NHS GMS was added to ERCC8.
Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cockayne syndrome, type A, 216400 for gene: ERCC8
Structural eye disease v0.15 ERCC6 Ivone Leong Source NHS GMS was added to ERCC6.
Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761 for gene: ERCC6
Structural eye disease v0.15 ERCC5 Ivone Leong Source NHS GMS was added to ERCC5.
Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5
Structural eye disease v0.15 ERCC4 Ivone Leong Source NHS GMS was added to ERCC4.
Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760 for gene: ERCC4
Structural eye disease v0.15 ERCC3 Ivone Leong Source NHS GMS was added to ERCC3.
Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390 for gene: ERCC3
Structural eye disease v0.15 ERCC2 Ivone Leong Source NHS GMS was added to ERCC2.
Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675 for gene: ERCC2
Structural eye disease v0.15 ERCC1 Ivone Leong Source NHS GMS was added to ERCC1.
Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1
Publications for gene ERCC1 were changed from to 17273966
Structural eye disease v0.15 ELP4 Ivone Leong Source NHS GMS was added to ELP4.
Added phenotypes ANIRIDIA 2, 617141 for gene: ELP4
Publications for gene ELP4 were changed from 24290376 to 24290376; 29217025
Structural eye disease v0.15 ELOVL4 Ivone Leong Source NHS GMS was added to ELOVL4.
Mode of inheritance for gene ELOVL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Stargardt disease 3, 600110 for gene: ELOVL4
Structural eye disease v0.15 EFEMP1 Ivone Leong Source NHS GMS was added to EFEMP1.
Mode of inheritance for gene EFEMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Doyne honeycomb degeneration of retina, 126600 for gene: EFEMP1
Structural eye disease v0.15 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Mode of inheritance for gene DHDDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 59, 613861 for gene: DHDDS
Structural eye disease v0.15 DDB2 Ivone Leong Source NHS GMS was added to DDB2.
Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740 for gene: DDB2
Structural eye disease v0.15 DDB1 Ivone Leong Source NHS GMS was added to DDB1.
Publications for gene DDB1 were changed from to 17129780
Structural eye disease v0.15 CYP4V2 Ivone Leong Source NHS GMS was added to CYP4V2.
Mode of inheritance for gene CYP4V2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bietti crystalline corneoretinal dystrophy, 210370 for gene: CYP4V2
Structural eye disease v0.15 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 for gene: CYP27A1
Structural eye disease v0.15 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Mode of inheritance for gene CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127 for gene: CTSD
Structural eye disease v0.15 CRX Ivone Leong Source NHS GMS was added to CRX.
Mode of inheritance for gene CRX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Leber congenital amaurosis 7, 613829; Cone-rod retinal dystrophy-2, 120970 for gene: CRX
Structural eye disease v0.15 CRB1 Ivone Leong Source NHS GMS was added to CRB1.
Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1
Publications for gene CRB1 were changed from to 23077403; 21484995
Structural eye disease v0.15 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Mode of inheritance for gene COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes STICKLER SYNDROME, TYPE V, 614284 for gene: COL9A2
Structural eye disease v0.15 COL9A1 Ivone Leong Source NHS GMS was added to COL9A1.
Mode of inheritance for gene COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type IV, 614134 for gene: COL9A1
Structural eye disease v0.15 COL2A1 Ivone Leong Source NHS GMS was added to COL2A1.
Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia, 156550; SED congenita; Stickler syndrome, type I, 108300; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia for gene: COL2A1
Publications for gene COL2A1 were changed from to 18541977, 17347327
Structural eye disease v0.15 COL11A2 Ivone Leong Source NHS GMS was added to COL11A2.
Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.15 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.
Mode of inheritance for gene COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Marshall syndrome, 154780; Stickler syndrome, type II, 604841 for gene: COL11A1
Structural eye disease v0.15 CNNM4 Ivone Leong Source NHS GMS was added to CNNM4.
Mode of inheritance for gene CNNM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Jalili syndrome, 217080 for gene: CNNM4
Publications for gene CNNM4 were changed from to 27419834
Structural eye disease v0.15 CNGB3 Ivone Leong Source NHS GMS was added to CNGB3.
Mode of inheritance for gene CNGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Structural eye disease v0.15 CNGB1 Ivone Leong Source NHS GMS was added to CNGB1.
Mode of inheritance for gene CNGB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 45, 613767 for gene: CNGB1
Structural eye disease v0.15 CNGA3 Ivone Leong Source NHS GMS was added to CNGA3.
Mode of inheritance for gene CNGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-2, 216900 for gene: CNGA3
Publications for gene CNGA3 were changed from to 24504161
Structural eye disease v0.15 CNGA1 Ivone Leong Source NHS GMS was added to CNGA1.
Mode of inheritance for gene CNGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 49, 613756 for gene: CNGA1
Structural eye disease v0.15 CLRN1 Ivone Leong Source NHS GMS was added to CLRN1.
Mode of inheritance for gene CLRN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180 for gene: CLRN1
Structural eye disease v0.15 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Mode of inheritance for gene CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
Structural eye disease v0.15 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Mode of inheritance for gene CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6
Structural eye disease v0.15 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Mode of inheritance for gene CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5
Structural eye disease v0.15 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Mode of inheritance for gene CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3
Structural eye disease v0.15 CIB2 Ivone Leong Source NHS GMS was added to CIB2.
Mode of inheritance for gene CIB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type IJ, 614869 for gene: CIB2
Structural eye disease v0.15 CHM Ivone Leong Source NHS GMS was added to CHM.
Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Choroideremia, 303100 for gene: CHM
Structural eye disease v0.15 CERKL Ivone Leong Source NHS GMS was added to CERKL.
Mode of inheritance for gene CERKL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 26, 608380 for gene: CERKL
Structural eye disease v0.15 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Added phenotypes Joubert syndrome 15, 614464 for gene: CEP41
Structural eye disease v0.15 CEP290 Ivone Leong Source NHS GMS was added to CEP290.
Source Expert Review Green was added to CEP290.
Added phenotypes Joubert syndrome 5, 610188; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991; Senior-Loken syndrome 6, 610189 for gene: CEP290
Publications for gene CEP290 were changed from to 30055837, 22355252
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 CDHR1 Ivone Leong Source NHS GMS was added to CDHR1.
Mode of inheritance for gene CDHR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 15, 613660 for gene: CDHR1
Structural eye disease v0.15 CDH3 Ivone Leong Source NHS GMS was added to CDH3.
Mode of inheritance for gene CDH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
Structural eye disease v0.15 CDH23 Ivone Leong Source NHS GMS was added to CDH23.
Mode of inheritance for gene CDH23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1D, 601067 for gene: CDH23
Structural eye disease v0.15 CACNA2D4 Ivone Leong Source NHS GMS was added to CACNA2D4.
Mode of inheritance for gene CACNA2D4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinal cone dystrophy 4, 610478 for gene: CACNA2D4
Structural eye disease v0.15 CACNA1F Ivone Leong Source NHS GMS was added to CACNA1F.
Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F
Structural eye disease v0.15 CABP4 Ivone Leong Source NHS GMS was added to CABP4.
Mode of inheritance for gene CABP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 for gene: CABP4
Structural eye disease v0.15 CA4 Ivone Leong Source NHS GMS was added to CA4.
Mode of inheritance for gene CA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 17, 600852 for gene: CA4
Structural eye disease v0.15 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Mode of inheritance for gene C8orf37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 16, 614500 for gene: C8orf37
Structural eye disease v0.15 C5orf42 Ivone Leong Source NHS GMS was added to C5orf42.
Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42
Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751
Structural eye disease v0.15 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Structural eye disease v0.15 C1QTNF5 Ivone Leong Source NHS GMS was added to C1QTNF5.
Mode of inheritance for gene C1QTNF5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinal degeneration, late-onset, autosomal dominant, 605670 for gene: C1QTNF5
Structural eye disease v0.15 BMPR1A Ivone Leong Source NHS GMS was added to BMPR1A.
Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene BMPR1A were changed from to 29522511
Structural eye disease v0.15 BMP7 Ivone Leong Source NHS GMS was added to BMP7.
Mode of pathogenicity for gene BMP7 was changed from to other - please provide details in the comments
Added phenotypes Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None for gene: BMP7
Publications for gene BMP7 were changed from 20506283 to 20506283; 7590254
Structural eye disease v0.15 BEST1 Ivone Leong Source NHS GMS was added to BEST1.
Source Expert Review Green was added to BEST1.
Mode of inheritance for gene BEST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 for gene: BEST1
Publications for gene BEST1 were changed from to 21473666; 15452077
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Mode of inheritance for gene BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome9, 615986 for gene: BBS9
Structural eye disease v0.15 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Mode of inheritance for gene BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome7, 615984 for gene: BBS7
Structural eye disease v0.15 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Mode of inheritance for gene BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome5, 615983 for gene: BBS5
Structural eye disease v0.15 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Mode of inheritance for gene BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome4, 615982 for gene: BBS4
Structural eye disease v0.15 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Mode of inheritance for gene BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 74, 616562; Bardet-Biedl syndrome2, 615981 for gene: BBS2
Structural eye disease v0.15 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Mode of inheritance for gene BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome12, 615989 for gene: BBS12
Structural eye disease v0.15 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Mode of inheritance for gene BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome10, 615987 for gene: BBS10
Structural eye disease v0.15 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome1, 209900 for gene: BBS1
Structural eye disease v0.15 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Source Expert Review Green was added to B3GLCT.
Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peters-plus syndrome 261540 for gene: B3GLCT
Publications for gene B3GLCT were changed from to 19796186; 16909395; 18798333
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225 for gene: ATP13A2
Structural eye disease v0.15 ATOH7 Ivone Leong Source NHS GMS was added to ATOH7.
Added phenotypes Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 for gene: ATOH7
Publications for gene ATOH7 were changed from 1838; 8779 to 11493566; 22068589; 1838; 8779
Structural eye disease v0.15 ASB10 Ivone Leong Source NHS GMS was added to ASB10.
Mode of inheritance for gene ASB10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes GLAUCOMA 1, OPEN ANGLE, F, 603383 for gene: ASB10
Structural eye disease v0.15 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Mode of inheritance for gene ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of} 209900; Retinitis pigmentosa 55, 613575 for gene: ARL6
Publications for gene ARL6 were changed from to 19097054
Structural eye disease v0.15 ARL13B Ivone Leong Source NHS GMS was added to ARL13B.
Added phenotypes Joubert syndrome 8 612291 for gene: ARL13B
Publications for gene ARL13B were changed from 18674751; 25138100 to 25138100; 18674751
Structural eye disease v0.15 ALMS1 Ivone Leong Source NHS GMS was added to ALMS1.
Mode of inheritance for gene ALMS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alstrom syndrome 203800 for gene: ALMS1
Structural eye disease v0.15 AIPL1 Ivone Leong Source NHS GMS was added to AIPL1.
Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1
Publications for gene AIPL1 were changed from to 25148430
Structural eye disease v0.15 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Added phenotypes Joubert syndrome 3, 608629 for gene: AHI1
Structural eye disease v0.15 ADGRV1 Ivone Leong Source NHS GMS was added to ADGRV1.
Mode of inheritance for gene ADGRV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 2C, 605472 for gene: ADGRV1
Structural eye disease v0.15 ADAM9 Ivone Leong Source NHS GMS was added to ADAM9.
Mode of inheritance for gene ADAM9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 9, 612775 for gene: ADAM9
Publications for gene ADAM9 were changed from to 25091951
Structural eye disease v0.15 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 for gene: ABHD12
Structural eye disease v0.15 ABCB6 Ivone Leong Source NHS GMS was added to ABCB6.
Mode of inheritance for gene ABCB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene ABCB6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Added phenotypes Microphthalmia, isolated, with coloboma 7 614497 for gene: ABCB6
Publications for gene ABCB6 were changed from to 22226084
Structural eye disease v0.15 ABCA4 Ivone Leong Source NHS GMS was added to ABCA4.
Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 3, 604116; Retinal dystrophy, early-onset severe; Fundus flavimaculatus; {Macular degeneration, age-related, 2}, 153800; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200 for gene: ABCA4
Structural eye disease v0.15 TUBGCP4 Ivone Leong Source NHS GMS was added to TUBGCP4.
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Structural eye disease v0.15 SBF2 Ivone Leong Source NHS GMS was added to SBF2.
Added phenotypes Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma for gene: SBF2
Publications for gene SBF2 were changed from to 15304601; 12687498
Structural eye disease v0.15 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Added phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 for gene: RBP4
Publications for gene RBP4 were changed from 9888420 to 25910211; 9888420; 27892788
Structural eye disease v0.15 PIGL Ivone Leong Source NHS GMS was added to PIGL.
Source Expert Review Green was added to PIGL.
Added phenotypes CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome for gene: PIGL
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 MAF Ivone Leong Source NHS GMS was added to MAF.
Source Expert Review Green was added to MAF.
Mode of pathogenicity for gene MAF was changed from to Other - please provide details in the comments
Added phenotypes Cataract 21, multiple types 610202 for gene: MAF
Publications for gene MAF were changed from 11772997 to 12642301; 17982426
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 LRP2 Ivone Leong Source NHS GMS was added to LRP2.
Source Expert Review Green was added to LRP2.
Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2
Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 IGBP1 Ivone Leong Source NHS GMS was added to IGBP1.
Mode of inheritance for gene IGBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 for gene: IGBP1
Publications for gene IGBP1 were changed from to 14556245
Structural eye disease v0.15 HMX1 Ivone Leong Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Mode of inheritance for gene HMX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Oculoauricular syndrome 612109 for gene: HMX1
Publications for gene HMX1 were changed from 18423520; 21417677; 25574057 to 21417677; 29140751; 25574057; 18423520
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 GJA1 Ivone Leong Source NHS GMS was added to GJA1.
Mode of pathogenicity for gene GJA1 was changed from to Other - please provide details in the comments
Added phenotypes open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia for gene: GJA1
Publications for gene GJA1 were changed from 21273537; 25976645 to 15637728; 25976645; 21273537; 30628995; 24508941
Structural eye disease v0.15 DDX58 Ivone Leong Source NHS GMS was added to DDX58.
Source Expert Review Green was added to DDX58.
Added phenotypes Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. for gene: DDX58
Publications for gene DDX58 were changed from 3588; 25620203; 2509 to 25620203; 30574673
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 YAP1 Ivone Leong Source NHS GMS was added to YAP1.
Mode of pathogenicity for gene YAP1 was changed from to Other - please provide details in the comments
Added phenotypes Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; isolated ocular coloboma for gene: YAP1
Publications for gene YAP1 were changed from 24462371; 27267789; 26209646 to 24462371; 27267789; 28801591
Structural eye disease v0.15 VSX2 Ivone Leong Source NHS GMS was added to VSX2.
Added phenotypes Microphthalmia with coloboma 3, 610092 for gene: VSX2
Publications for gene VSX2 were changed from 10932181, 24859618 to 20414678; 10932181
Structural eye disease v0.15 TMEM98 Ivone Leong Source NHS GMS was added to TMEM98.
Mode of pathogenicity for gene TMEM98 was changed from to Other - please provide details in the comments
Added phenotypes NNO4 Nanophthalmos 4, 615972 for gene: TMEM98
Publications for gene TMEM98 were changed from 26392740; 24852644 to 24852644; 26392740
Structural eye disease v0.15 TBC1D20 Ivone Leong Source NHS GMS was added to TBC1D20.
Added phenotypes Warburg micro syndrome 4, 615663 for gene: TBC1D20
Publications for gene TBC1D20 were changed from to 24239381
Structural eye disease v0.15 STRA6 Ivone Leong Source NHS GMS was added to STRA6.
Added phenotypes Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186; Syndromic Microphthalmia, Recessive for gene: STRA6
Publications for gene STRA6 were changed from 17273977, 24859618 to 24859618; 17273977
Structural eye disease v0.15 SOX2 Ivone Leong Source NHS GMS was added to SOX2.
Mode of pathogenicity for gene SOX2 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 3 206900 for gene: SOX2
Publications for gene SOX2 were changed from 12612584, 24859618 to 12612584; 24859618
Structural eye disease v0.15 SMOC1 Ivone Leong Source NHS GMS was added to SMOC1.
Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Publications for gene SMOC1 were changed from to 30445150; 21194678; 21194680
Structural eye disease v0.15 SMO Ivone Leong Source NHS GMS was added to SMO.
Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments
Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO
Structural eye disease v0.15 SIX6 Ivone Leong Source NHS GMS was added to SIX6.
Mode of inheritance for gene SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change
Mode of pathogenicity for gene SIX6 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia with cataract 2, 212550; Anophthalmia/Microphthalmia; Optic disc anomalies with retinal and/or macular dystrophy, 212550 for gene: SIX6
Publications for gene SIX6 were changed from 23167593, 24702266 to 15266624; 29450879; 23167593; 24702266
Structural eye disease v0.15 SHH Ivone Leong Source NHS GMS was added to SHH.
Added phenotypes Holoprosencephaly-3, 142945; Schizencephaly, 269160; Single median maxillary central incisor, 147250; Microphthalmia with coloboma 5, 611638 for gene: SHH
Publications for gene SHH were changed from to 20425842; 12503095
Structural eye disease v0.15 SALL4 Ivone Leong Source NHS GMS was added to SALL4.
Added phenotypes Duane-radial ray syndrome, 607323 for gene: SALL4
Publications for gene SALL4 were changed from 12843316, 6426304 to 12843316; 6426304
Structural eye disease v0.15 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L
Structural eye disease v0.15 RAX Ivone Leong Source NHS GMS was added to RAX.
Added phenotypes Anophthalmia/Microphthalmia for gene: RAX
Publications for gene RAX were changed from to 24033328; 14662654; 18783408
Structural eye disease v0.15 RARB Ivone Leong Source NHS GMS was added to RARB.
Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
Structural eye disease v0.15 RAB3GAP2 Ivone Leong Source NHS GMS was added to RAB3GAP2.
Added phenotypes Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome for gene: RAB3GAP2
Publications for gene RAB3GAP2 were changed from to 23420520
Structural eye disease v0.15 RAB3GAP1 Ivone Leong Source NHS GMS was added to RAB3GAP1.
Added phenotypes Warburg micro syndrome 1, 600118; Warburg Micro Syndrome for gene: RAB3GAP1
Publications for gene RAB3GAP1 were changed from to 21473985
Structural eye disease v0.15 RAB18 Ivone Leong Source NHS GMS was added to RAB18.
Added phenotypes Warburg Micro Syndrome; Warburg micro syndrome 3, 614222 for gene: RAB18
Publications for gene RAB18 were changed from to 21473985
Structural eye disease v0.15 PUF60 Ivone Leong Source NHS GMS was added to PUF60.
Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments
Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60
Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398
Structural eye disease v0.15 PRSS56 Ivone Leong Source NHS GMS was added to PRSS56.
Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Publications for gene PRSS56 were changed from to 29450879
Structural eye disease v0.15 PORCN Ivone Leong Source NHS GMS was added to PORCN.
Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN
Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030
Structural eye disease v0.15 PITX2 Ivone Leong Source NHS GMS was added to PITX2.
Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments
Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2
Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018
Structural eye disease v0.15 PAX6 Ivone Leong Source NHS GMS was added to PAX6.
Mode of pathogenicity for gene PAX6 was changed from to Other - please provide details in the comments
Added phenotypes Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 for gene: PAX6
Publications for gene PAX6 were changed from 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041 to 17406642; 11826019; 1302030; 19876904; 17148041; 8111379; 9931324; 7666404; 17595013; 12552561; 7951315; 11553050; 7550230
Structural eye disease v0.15 PAX2 Ivone Leong Source NHS GMS was added to PAX2.
Mode of pathogenicity for gene PAX2 was changed from to Other - please provide details in the comments
Added phenotypes Papillorenal syndrome 120330 for gene: PAX2
Publications for gene PAX2 were changed from 8589702; 22213154; 10533062 to 10533062; 8589702; 22213154
Structural eye disease v0.15 OTX2 Ivone Leong Source NHS GMS was added to OTX2.
Mode of pathogenicity for gene OTX2 was changed from to Other - please provide details in the comments
Added phenotypes severe, bilateral cases; OTX2-Related Syndromic Microphthalmia; Microphthalmia, syndromic 5, 610125 for gene: OTX2
Publications for gene OTX2 were changed from 15846561, 18781617,24859618 to 15846561; 24859618; 18781617
Structural eye disease v0.15 MYOC Ivone Leong Source NHS GMS was added to MYOC.
Added phenotypes Glaucoma 1A, primary open angle, 137750 for gene: MYOC
Publications for gene MYOC were changed from 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 to 9697688; 9005853; 9328473; 12522550; 10330365; 9535666; 9345106
Structural eye disease v0.15 MFRP Ivone Leong Source NHS GMS was added to MFRP.
Added phenotypes Isolated Microphthalmia; Microphthalmia, isolated 5, 611040 for gene: MFRP
Publications for gene MFRP were changed from to 29450879
Structural eye disease v0.15 MAB21L2 Ivone Leong Source NHS GMS was added to MAB21L2.
Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2
Structural eye disease v0.15 LTBP2 Ivone Leong Source NHS GMS was added to LTBP2.
Added phenotypes Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma for gene: LTBP2
Structural eye disease v0.15 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Added phenotypes Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Publications for gene HCCS were changed from 17033964, 24859618 to 24859618; 17033964
Structural eye disease v0.15 GRIP1 Ivone Leong Source NHS GMS was added to GRIP1.
Added phenotypes FRASER SYNDROME 3 617667 for gene: GRIP1
Publications for gene GRIP1 were changed from to 22510445
Structural eye disease v0.15 FREM2 Ivone Leong Source NHS GMS was added to FREM2.
Added phenotypes FRASER SYNDROME 2 617666 for gene: FREM2
Publications for gene FREM2 were changed from to 15838507
Structural eye disease v0.15 FREM1 Ivone Leong Source NHS GMS was added to FREM1.
Added phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 for gene: FREM1
Publications for gene FREM1 were changed from to 21507892
Structural eye disease v0.15 FRAS1 Ivone Leong Source NHS GMS was added to FRAS1.
Added phenotypes FRASER SYNDROME 1 219000 for gene: FRAS1
Publications for gene FRAS1 were changed from to 12766769
Structural eye disease v0.15 FOXE3 Ivone Leong Source NHS GMS was added to FOXE3.
Mode of pathogenicity for gene FOXE3 was changed from to Other - please provide details in the comments
Added phenotypes Anterior segment mesenchymal dysgenesis 107250; Anterior segment dysgenesis 2, multiple subtypes 610256 for gene: FOXE3
Publications for gene FOXE3 were changed from 11159941; 21150893; 27218149; 16826526; 20361012; 24859618, 19708017 to 16826526; 24859618, 19708017; 20361012; 11159941; 27218149; 21150893
Structural eye disease v0.15 FOXD3 Ivone Leong Source NHS GMS was added to FOXD3.
Mode of pathogenicity for gene FOXD3 was changed from to Other - please provide details in the comments
Added phenotypes Anterior segment dysgenesis; Peters anomaly; aniridia for gene: FOXD3
Structural eye disease v0.15 FOXC1 Ivone Leong Source NHS GMS was added to FOXC1.
Mode of pathogenicity for gene FOXC1 was changed from to Other - please provide details in the comments
Added phenotypes Axenfeld-Rieger syndrome, type 3 602482; Anterior segment dysgenesis 3, multiple subtypes 601631 for gene: FOXC1
Publications for gene FOXC1 were changed from 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756
Structural eye disease v0.15 CYP1B1 Ivone Leong Source NHS GMS was added to CYP1B1.
Added phenotypes Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; primary congenital glaucoma; Primary Congenital Glaucoma; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset for gene: CYP1B1
Publications for gene CYP1B1 were changed from 9463332; 9097971; 9497261; 12372064 to 12372064; 9463332; 9097971; 9497261
Structural eye disease v0.15 COL4A1 Ivone Leong Source NHS GMS was added to COL4A1.
Mode of pathogenicity for gene COL4A1 was changed from to Other - please provide details in the comments
Added phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 for gene: COL4A1
Publications for gene COL4A1 were changed from to 30181649; 24628545
Structural eye disease v0.15 CLDN19 Ivone Leong Source NHS GMS was added to CLDN19.
Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
Publications for gene CLDN19 were changed from 17033971, 500385 to 17033971; 500385
Structural eye disease v0.15 CHD7 Ivone Leong Source NHS GMS was added to CHD7.
Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments
Added phenotypes CHARGE syndrome, 214800 for gene: CHD7
Structural eye disease v0.15 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Added phenotypes COACH syndrome, 216360 for gene: CC2D2A
Structural eye disease v0.15 C12orf57 Ivone Leong Source NHS GMS was added to C12orf57.
Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Publications for gene C12orf57 were changed from 23453665, 24859618 to 23453665 24859618
Structural eye disease v0.15 BMP4 Ivone Leong Source NHS GMS was added to BMP4.
Added phenotypes Orofacial cleft 11, 600625; Microphthalmia, syndromic 6, 607932; BMP4-Related Syndromic Microphthalmia for gene: BMP4
Publications for gene BMP4 were changed from 18252212, 2427285 to 18252212; 2427285
Structural eye disease v0.15 BCOR Ivone Leong Source NHS GMS was added to BCOR.
Mode of pathogenicity for gene BCOR was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Publications for gene BCOR were changed from to 29974297; 15004558; 17517692
Structural eye disease v0.15 ALDH1A3 Ivone Leong Source NHS GMS was added to ALDH1A3.
Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3
Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610
Structural eye disease v0.15 ADAMTS17 Ivone Leong Source NHS GMS was added to ADAMTS17.
Added phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) for gene: ADAMTS17
Publications for gene ADAMTS17 were changed from 6506; 19836009; 2268 to 19836009
Structural eye disease v0.15 ADAMTS10 Ivone Leong Source NHS GMS was added to ADAMTS10.
Added phenotypes Weill-Marchesani syndrome 1, recessive for gene: ADAMTS10
Structural eye disease v0.15 ACTG1 Ivone Leong Source NHS GMS was added to ACTG1.
Mode of pathogenicity for gene ACTG1 was changed from to Other - please provide details in the comments
Added phenotypes Baraitser-Winter syndrome 2, 614583 for gene: ACTG1
Structural eye disease v0.15 ACTB Ivone Leong Source NHS GMS was added to ACTB.
Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments
Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Structural eye disease v0.14 EFTUD2 Ivone Leong Mode of inheritance for gene: EFTUD2 was changed from mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.13 ISPD Ivone Leong commented on gene: ISPD
Structural eye disease v0.13 ISPD Ivone Leong Tag new-gene-name tag was added to gene: ISPD.
Structural eye disease v0.13 FAT1 Ivone Leong gene: FAT1 was added
gene: FAT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 12724416; 30862798
Structural eye disease v0.13 SMAD4 Ivone Leong gene: SMAD4 was added
gene: SMAD4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 11977156; 20735985
Phenotypes for gene: SMAD4 were set to Myhre syndrome, 139210
Structural eye disease v0.13 PRR12 Ivone Leong gene: PRR12 was added
gene: PRR12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724
Structural eye disease v0.13 POMT2 Ivone Leong gene: POMT2 was added
gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 28815891; 15894594
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Structural eye disease v0.13 POMT1 Ivone Leong gene: POMT1 was added
gene: POMT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 15037715; 12369018
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Structural eye disease v0.13 OLFM2 Ivone Leong gene: OLFM2 was added
gene: OLFM2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: OLFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OLFM2 were set to 27844144
Structural eye disease v0.13 MITF Ivone Leong gene: MITF was added
gene: MITF was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to 27889061
Phenotypes for gene: MITF were set to COMMAD syndrome, 617306
Structural eye disease v0.13 KIAA1109 Ivone Leong gene: KIAA1109 was added
gene: KIAA1109 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 617822; 29290337
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome
Structural eye disease v0.13 ISPD Ivone Leong gene: ISPD was added
gene: ISPD was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 22522421
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Structural eye disease v0.13 IPO13 Ivone Leong gene: IPO13 was added
gene: IPO13 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: IPO13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO13 were set to 29700284
Structural eye disease v0.13 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI2 were set to 17096318; 21204792
Phenotypes for gene: GLI2 were set to Holoprosencephaly 9, 610829
Structural eye disease v0.13 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 20675713; 19955119; 20236121; 15121789
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Structural eye disease v0.13 EFTUD2 Ivone Leong gene: EFTUD2 was added
gene: EFTUD2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFTUD2 was set to mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 26118977
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, 610536
Structural eye disease v0.13 CPAMD8 Ivone Leong gene: CPAMD8 was added
gene: CPAMD8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 27839872
Structural eye disease v0.13 ZIC2 Ivone Leong gene: ZIC2 was added
gene: ZIC2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC2 were set to 21976454
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5, 609637
Structural eye disease v0.13 ZEB2 Ivone Leong gene: ZEB2 was added
gene: ZEB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZEB2 were set to 16053902
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
Structural eye disease v0.13 ZEB1 Ivone Leong gene: ZEB1 was added
gene: ZEB1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB1 were set to Corneal dystrophy, Fuchs endothelial, 6, 613270; Corneal dystrophy, posterior polymorphous, 3, 609141
Structural eye disease v0.13 WRN Ivone Leong gene: WRN was added
gene: WRN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700
Structural eye disease v0.13 VSX1 Ivone Leong gene: VSX1 was added
gene: VSX1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VSX1 were set to 15051220
Phenotypes for gene: VSX1 were set to Keratoconus 1, 148300; Corneal dystrophy, posterior polymorphous, 1, 122000; Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195
Structural eye disease v0.13 VIM Ivone Leong gene: VIM was added
gene: VIM was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VIM were set to Cataract 30, pulverulent, 116300
Structural eye disease v0.13 UBIAD1 Ivone Leong gene: UBIAD1 was added
gene: UBIAD1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type, 121800
Structural eye disease v0.13 TMX3 Ivone Leong gene: TMX3 was added
gene: TMX3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TMX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMX3 were set to 20485507
Phenotypes for gene: TMX3 were set to Microphthalmia, coloboma, micrognathia, diaphragmatic hernia; None
Structural eye disease v0.13 TGFBI Ivone Leong gene: TGFBI was added
gene: TGFBI was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBI were set to 607541; Corneal dystrophy, lattice type IIIA; 608470; Corneal dystrophy, lattice type I; 122200; Corneal dystrophy, Reis-Bucklers type; 121900; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; 608471; Corneal dystrophy, Avellino type; 121820; Corneal dystrophy, Thiel-Behnke type; 602082
Structural eye disease v0.13 TDRD7 Ivone Leong gene: TDRD7 was added
gene: TDRD7 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887
Structural eye disease v0.13 TCOF1 Ivone Leong gene: TCOF1 was added
gene: TCOF1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCOF1 were set to 10888597; 8741923
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 (eyelid coloboma), 154500
Structural eye disease v0.13 TBX22 Ivone Leong gene: TBX22 was added
gene: TBX22 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBX22 were set to 22784330
Phenotypes for gene: TBX22 were set to ?Abruzzo-Erickson syndrome, 302905
Structural eye disease v0.13 TBC1D32 Ivone Leong gene: TBC1D32 was added
gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 24285566
Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865
Structural eye disease v0.13 TACSTD2 Ivone Leong gene: TACSTD2 was added
gene: TACSTD2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like, 204870
Structural eye disease v0.13 SRD5A3 Ivone Leong gene: SRD5A3 was added
gene: SRD5A3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 20637498; 20700148; 26219881
Phenotypes for gene: SRD5A3 were set to Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Structural eye disease v0.13 SMCHD1 Ivone Leong gene: SMCHD1 was added
gene: SMCHD1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMCHD1 were set to 28067911; 28067909
Phenotypes for gene: SMCHD1 were set to ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
Structural eye disease v0.13 SLC4A4 Ivone Leong gene: SLC4A4 was added
gene: SLC4A4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 10545938; 11274232
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Structural eye disease v0.13 SLC4A11 Ivone Leong gene: SLC4A11 was added
gene: SLC4A11 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy 2, autosomal recessive, 217700
Structural eye disease v0.13 SLC38A8 Ivone Leong gene: SLC38A8 was added
gene: SLC38A8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Structural eye disease v0.13 SLC33A1 Ivone Leong gene: SLC33A1 was added
gene: SLC33A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482
Structural eye disease v0.13 SLC2A1 Ivone Leong gene: SLC2A1 was added
gene: SLC2A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Structural eye disease v0.13 SLC16A12 Ivone Leong gene: SLC16A12 was added
gene: SLC16A12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile, with microcornea and glucosuria, 612018
Structural eye disease v0.13 SIL1 Ivone Leong gene: SIL1 was added
gene: SIL1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Structural eye disease v0.13 SH3PXD2B Ivone Leong gene: SH3PXD2B was added
gene: SH3PXD2B was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3PXD2B were set to 29100834; 20137777
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420
Structural eye disease v0.13 SEMA3E Ivone Leong gene: SEMA3E was added
gene: SEMA3E was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3E were set to CHARGE, 214800
Structural eye disease v0.13 SEC23A Ivone Leong gene: SEC23A was added
gene: SEC23A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812
Structural eye disease v0.13 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 29450879; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None
Structural eye disease v0.13 SC5D Ivone Leong gene: SC5D was added
gene: SC5D was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS, 607330
Structural eye disease v0.13 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL1 were set to 16088922; 17221874; 9973281
Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480
Structural eye disease v0.13 PXDN Ivone Leong gene: PXDN was added
gene: PXDN was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PXDN were set to 29450879; 21907015; 24939590
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.13 PTCH1 Ivone Leong gene: PTCH1 was added
gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTCH1 were set to 17001668; 16024850
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828
Structural eye disease v0.13 PRDM5 Ivone Leong gene: PRDM5 was added
gene: PRDM5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170
Structural eye disease v0.13 PQBP1 Ivone Leong gene: PQBP1 was added
gene: PQBP1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to 17033686
Phenotypes for gene: PQBP1 were set to Renpenning syndrome (can include microphthalmia/coloboma), 309500
Structural eye disease v0.13 POLR1D Ivone Leong gene: POLR1D was added
gene: POLR1D was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLR1D were set to Treacher-Collins Syndrome 2, 613717
Structural eye disease v0.13 POLR1C Ivone Leong gene: POLR1C was added
gene: POLR1C was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher-Collins Syndrome, 248390
Structural eye disease v0.13 PIKFYVE Ivone Leong gene: PIKFYVE was added
gene: PIKFYVE was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy, 121850
Structural eye disease v0.13 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4B, 614863
Structural eye disease v0.13 PEX5 Ivone Leong gene: PEX5 was added
gene: PEX5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B, 202370
Structural eye disease v0.13 PEX3 Ivone Leong gene: PEX3 was added
gene: PEX3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 603164
Structural eye disease v0.13 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873
Structural eye disease v0.13 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
Structural eye disease v0.13 PEX19 Ivone Leong gene: PEX19 was added
gene: PEX19 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886
Structural eye disease v0.13 PEX16 Ivone Leong gene: PEX16 was added
gene: PEX16 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B, 614877
Structural eye disease v0.13 PEX14 Ivone Leong gene: PEX14 was added
gene: PEX14 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Structural eye disease v0.13 PEX13 Ivone Leong gene: PEX13 was added
gene: PEX13 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885
Structural eye disease v0.13 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B, 266510
Structural eye disease v0.13 PEX11B Ivone Leong gene: PEX11B was added
gene: PEX11B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920
Structural eye disease v0.13 PEX10 Ivone Leong gene: PEX10 was added
gene: PEX10 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871
Structural eye disease v0.13 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 24166846
Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
Structural eye disease v0.13 PAX3 Ivone Leong gene: PAX3 was added
gene: PAX3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820
Structural eye disease v0.13 P3H2 Ivone Leong gene: P3H2 was added
gene: P3H2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H2 were set to MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292
Structural eye disease v0.13 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 19168822
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000
Structural eye disease v0.13 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 22173065
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205
Structural eye disease v0.13 NHS Ivone Leong gene: NHS was added
gene: NHS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NHS were set to 28922055; 17417607; 23566852
Phenotypes for gene: NHS were set to Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200
Structural eye disease v0.13 NF2 Ivone Leong gene: NF2 was added
gene: NF2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis, Type II, 101000
Structural eye disease v0.13 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Epstein Syndrome, 153650; Fechtner syndrome, 153640
Structural eye disease v0.13 MIR184 Ivone Leong gene: MIR184 was added
gene: MIR184 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR184 were set to EDICT syndrome, 614303
Structural eye disease v0.13 MIP Ivone Leong gene: MIP was added
gene: MIP was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIP were set to Cataract 15, multiple types, 615274
Structural eye disease v0.13 MAN2B1 Ivone Leong gene: MAN2B1 was added
gene: MAN2B1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500
Structural eye disease v0.13 LMX1B Ivone Leong gene: LMX1B was added
gene: LMX1B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200
Structural eye disease v0.13 LIM2 Ivone Leong gene: LIM2 was added
gene: LIM2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIM2 were set to Cataract 19, 615277
Structural eye disease v0.13 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900; Fish-eye disease, 136120
Structural eye disease v0.13 LAMB2 Ivone Leong gene: LAMB2 was added
gene: LAMB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 27130041; 30778388; 28188379; 30120985; 28683731; 29450879
Phenotypes for gene: LAMB2 were set to Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049
Structural eye disease v0.13 KRT3 Ivone Leong gene: KRT3 was added
gene: KRT3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy, 122100
Structural eye disease v0.13 KRT12 Ivone Leong gene: KRT12 was added
gene: KRT12 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy, 122100
Structural eye disease v0.13 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 (can include coloboma), 147920
Structural eye disease v0.13 KERA Ivone Leong gene: KERA was added
gene: KERA was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KERA were set to Cornea plana congenita, recessive, 217300
Structural eye disease v0.13 KAT6B Ivone Leong gene: KAT6B was added
gene: KAT6B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KAT6B were set to SBBYSS syndrome (blepharophimosis), 603736
Structural eye disease v0.13 JAM3 Ivone Leong gene: JAM3 was added
gene: JAM3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Structural eye disease v0.13 ITPR1 Ivone Leong gene: ITPR1 was added
gene: ITPR1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700
Structural eye disease v0.13 ITPA Ivone Leong gene: ITPA was added
gene: ITPA was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 26224535
Phenotypes for gene: ITPA were set to Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None
Structural eye disease v0.13 HSF4 Ivone Leong gene: HSF4 was added
gene: HSF4 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HSF4 were set to Cataract 5, multiple types, 116800
Structural eye disease v0.13 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, 105120
Structural eye disease v0.13 GNPTG Ivone Leong gene: GNPTG was added
gene: GNPTG was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605
Structural eye disease v0.13 GJA8 Ivone Leong gene: GJA8 was added
gene: GJA8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, 116200
Structural eye disease v0.13 GJA3 Ivone Leong gene: GJA3 was added
gene: GJA3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA3 were set to Cataract 14, multiple types, 601885
Structural eye disease v0.13 GFER Ivone Leong gene: GFER was added
gene: GFER was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Structural eye disease v0.13 GCNT2 Ivone Leong gene: GCNT2 was added
gene: GCNT2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCNT2 were set to Cataract 13 with adult i phenotype, 116700
Structural eye disease v0.13 GALT Ivone Leong gene: GALT was added
gene: GALT was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400
Structural eye disease v0.13 GALK1 Ivone Leong gene: GALK1 was added
gene: GALK1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, 230200
Structural eye disease v0.13 FZD5 Ivone Leong gene: FZD5 was added
gene: FZD5 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 26908622
Phenotypes for gene: FZD5 were set to Coloboma, None
Structural eye disease v0.13 FYCO1 Ivone Leong gene: FYCO1 was added
gene: FYCO1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019
Structural eye disease v0.13 FTL Ivone Leong gene: FTL was added
gene: FTL was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Hyperferritinemia-cataract syndrome, 600886
Structural eye disease v0.13 FOXL2 Ivone Leong gene: FOXL2 was added
gene: FOXL2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXL2 were set to Blepharophimosis, epicanthus inversus, and ptosis, 110100
Structural eye disease v0.13 FNBP4 Ivone Leong gene: FNBP4 was added
gene: FNBP4 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FNBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FNBP4 were set to Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920
Structural eye disease v0.13 FBN1 Ivone Leong gene: FBN1 was added
gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 1301946, 8136837
Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600
Structural eye disease v0.13 FAM126A Ivone Leong gene: FAM126A was added
gene: FAM126A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Structural eye disease v0.13 FAM111A Ivone Leong gene: FAM111A was added
gene: FAM111A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia; 127000; 602361; Kenny-Caffey syndrome, type 2
Structural eye disease v0.13 FADD Ivone Leong gene: FADD was added
gene: FADD was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FADD were set to 17656375
Phenotypes for gene: FADD were set to None; Iris coloboma, retinal coloboma
Structural eye disease v0.13 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1, 602588; Anterior segment anomalies with or without cataract, 113650
Structural eye disease v0.13 EPHA2 Ivone Leong gene: EPHA2 was added
gene: EPHA2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EPHA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPHA2 were set to Cataract 6, multiple types, 116600
Structural eye disease v0.13 EPG5 Ivone Leong gene: EPG5 was added
gene: EPG5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840
Structural eye disease v0.13 DPYD Ivone Leong gene: DPYD was added
gene: DPYD was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency , 274270
Structural eye disease v0.13 DHX38 Ivone Leong gene: DHX38 was added
gene: DHX38 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were set to Retinitis Pigmentosa and Macular Coloboma, 618220
Structural eye disease v0.13 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400
Structural eye disease v0.13 DCN Ivone Leong gene: DCN was added
gene: DCN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal, 610048
Structural eye disease v0.13 CYP51A1 Ivone Leong gene: CYP51A1 was added
gene: CYP51A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CYP51A1 was set to
Structural eye disease v0.13 CTDP1 Ivone Leong gene: CTDP1 was added
gene: CTDP1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Structural eye disease v0.13 CRYGS Ivone Leong gene: CRYGS was added
gene: CRYGS was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYGS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGS were set to Cataract 20, multiple types, 116100
Structural eye disease v0.13 CRYGD Ivone Leong gene: CRYGD was added
gene: CRYGD was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGD were set to Cataract 4, Multiple Types, 115700
Structural eye disease v0.13 CRYGC Ivone Leong gene: CRYGC was added
gene: CRYGC was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYGC were set to 29386872; 24281366
Phenotypes for gene: CRYGC were set to Cataract 2, multiple types (often with microcornea), 604307
Structural eye disease v0.13 CRYGB Ivone Leong gene: CRYGB was added
gene: CRYGB was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYGB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGB were set to Cataract 39, multiple types, autosomal dominant, 615188
Structural eye disease v0.13 CRYBB3 Ivone Leong gene: CRYBB3 was added
gene: CRYBB3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYBB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to Cataract 22, autosomal recessive, 609741
Structural eye disease v0.13 CRYBB2 Ivone Leong gene: CRYBB2 was added
gene: CRYBB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBB2 were set to 29386872
Phenotypes for gene: CRYBB2 were set to Cataract 3, multiple types, 601547
Structural eye disease v0.13 CRYBB1 Ivone Leong gene: CRYBB1 was added
gene: CRYBB1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were set to 29386872
Phenotypes for gene: CRYBB1 were set to Cataract 17, multiple types, 611544
Structural eye disease v0.13 CRYBA4 Ivone Leong gene: CRYBA4 was added
gene: CRYBA4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA4 were set to 16960806; 20577656
Phenotypes for gene: CRYBA4 were set to Cataract 23 (and microphthalmia in 1 case), 610425
Structural eye disease v0.13 CRYBA1 Ivone Leong gene: CRYBA1 was added
gene: CRYBA1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA1 were set to 26303524
Phenotypes for gene: CRYBA1 were set to Cataract 10, multiple types, 600881
Structural eye disease v0.13 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to CATARACT 16, MULTIPLE TYPES, 613763
Structural eye disease v0.13 CRYAA Ivone Leong gene: CRYAA was added
gene: CRYAA was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Phenotypes for gene: CRYAA were set to Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219
Structural eye disease v0.13 CRIM1 Ivone Leong gene: CRIM1 was added
gene: CRIM1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRIM1 were set to 25561690; 26681494
Phenotypes for gene: CRIM1 were set to Macrophthalmia, Colobomatous, with microcornea, 602499
Structural eye disease v0.13 COL8A2 Ivone Leong gene: COL8A2 was added
gene: COL8A2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; Corneal dystrophy, posterior polymorphous 2, 609140
Structural eye disease v0.13 COL18A1 Ivone Leong gene: COL18A1 was added
gene: COL18A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL18A1 were set to 17546652; 22399687
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750
Structural eye disease v0.13 CHST6 Ivone Leong gene: CHST6 was added
gene: CHST6 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST6 were set to Macular corneal dystrophy, 217800
Structural eye disease v0.13 CHRDL1 Ivone Leong gene: CHRDL1 was added
gene: CHRDL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHRDL1 were set to 22284829
Phenotypes for gene: CHRDL1 were set to Megalocornea 1, X-linked, 309300
Structural eye disease v0.13 CHMP4B Ivone Leong gene: CHMP4B was added
gene: CHMP4B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CHMP4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHMP4B were set to 17701905
Phenotypes for gene: CHMP4B were set to Cataract 31, multiple types, 605387
Structural eye disease v0.13 CBS Ivone Leong gene: CBS was added
gene: CBS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 24169224; 11774777; 21626167; 7611293
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Structural eye disease v0.13 BFSP2 Ivone Leong gene: BFSP2 was added
gene: BFSP2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BFSP2 were set to Cataract 12, multiple types, 611597
Structural eye disease v0.13 BFSP1 Ivone Leong gene: BFSP1 was added
gene: BFSP1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: BFSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BFSP1 were set to Cataract 33, 611391
Structural eye disease v0.13 ALDH18A1 Ivone Leong gene: ALDH18A1 was added
gene: ALDH18A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 21739576
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150
Structural eye disease v0.13 AGPS Ivone Leong gene: AGPS was added
gene: AGPS was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3, 600121
Structural eye disease v0.13 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Sengers syndrome, 212350
Structural eye disease v0.13 AGBL1 Ivone Leong gene: AGBL1 was added
gene: AGBL1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, 615523
Structural eye disease v0.13 ADAMTSL4 Ivone Leong gene: ADAMTSL4 was added
gene: ADAMTSL4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL4 were set to 20141359; 25975359; 20702823
Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, 225200; Ectopia lentis, isolated, autosomal recessive, 225100
Structural eye disease v0.13 ADAMTS18 Ivone Leong gene: ADAMTS18 was added
gene: ADAMTS18 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to 23818446
Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Structural eye disease v0.12 B3GALT1 Ivone Leong Classified gene: B3GALT1 as No list
Structural eye disease v0.12 B3GALT1 Ivone Leong Added comment: Comment on list classification: Demoted to grey gene status as this gene is not relevant and should have been B3GLCT instead.
Structural eye disease v0.12 B3GALT1 Ivone Leong Gene: b3galt1 has been removed from the panel.
Structural eye disease v0.11 ABCB6 Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402
Structural eye disease v0.10 HMX1 Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.9 PAX2 Ivone Leong Publications for gene: PAX2 were set to 8589702
Structural eye disease v0.8 PAX2 Anna de Burca reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22213154, 10533062; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.8 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Structural eye disease v0.7 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Structural eye disease v0.7 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Structural eye disease v0.6 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Structural eye disease. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Structural eye disease v0.5 SIX6 Ellen McDonagh Added comment: Comment on mode of inheritance: This is a Green gene on the Anophthalmia or microphthalmia gene panel (Version 1.15, code 34) with a mode of inheritance of monoallelic for Anophthalmia/Microphthalmia/ Microphthalmia with cataract. It is Amber on the Ocular coloboma gene panel (Version 1.20, code 294), with the mode of inheritance BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Optic disc anomalies with retinal and/or macular dystrophy, 212550. It is therefore monoallelic here, to represent the mode of inheritance for the highest rating.
Structural eye disease v0.5 SIX6 Ellen McDonagh Mode of inheritance for gene: SIX6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.2 WDR36 Ellen McDonagh gene: WDR36 was added
gene: WDR36 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR36 were set to 17353431; 18172102; 15677485
Phenotypes for gene: WDR36 were set to Glaucoma 1, open angle, G 609887
Structural eye disease v0.2 SBF2 Ellen McDonagh gene: SBF2 was added
gene: SBF2 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma
Structural eye disease v0.2 LTBP2 Ellen McDonagh gene: LTBP2 was added
gene: LTBP2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738
Phenotypes for gene: LTBP2 were set to Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Structural eye disease v0.2 ZNF513 Ellen McDonagh gene: ZNF513 was added
gene: ZNF513 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF513 was set to
Phenotypes for gene: ZNF513 were set to Eye Disorders
Structural eye disease v0.2 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF423 was set to
Phenotypes for gene: ZNF423 were set to Eye Disorders
Structural eye disease v0.2 XPC Ellen McDonagh gene: XPC was added
gene: XPC was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPC was set to
Structural eye disease v0.2 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPA was set to
Structural eye disease v0.2 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WT1 was set to
Phenotypes for gene: WT1 were set to Eye Disorders
Structural eye disease v0.2 WHRN Ellen McDonagh gene: WHRN was added
gene: WHRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WHRN was set to
Phenotypes for gene: WHRN were set to Eye Disorders
Structural eye disease v0.2 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WFS1 was set to
Phenotypes for gene: WFS1 were set to Eye Disorders
Structural eye disease v0.2 WDPCP Ellen McDonagh gene: WDPCP was added
gene: WDPCP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDPCP was set to
Phenotypes for gene: WDPCP were set to Eye Disorders
Structural eye disease v0.2 VCAN Ellen McDonagh gene: VCAN was added
gene: VCAN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VCAN was set to
Phenotypes for gene: VCAN were set to Eye Disorders
Structural eye disease v0.2 VAX1 Ellen McDonagh gene: VAX1 was added
gene: VAX1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VAX1 was set to
Phenotypes for gene: VAX1 were set to Microphthalmia, syndromic 11, 614402
Structural eye disease v0.2 USH2A Ellen McDonagh gene: USH2A was added
gene: USH2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH2A was set to
Phenotypes for gene: USH2A were set to Eye Disorders
Structural eye disease v0.2 USH1G Ellen McDonagh gene: USH1G was added
gene: USH1G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1G was set to
Phenotypes for gene: USH1G were set to Eye Disorders
Structural eye disease v0.2 USH1C Ellen McDonagh gene: USH1C was added
gene: USH1C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1C was set to
Phenotypes for gene: USH1C were set to Eye Disorders
Structural eye disease v0.2 UNC119 Ellen McDonagh gene: UNC119 was added
gene: UNC119 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: UNC119 was set to
Phenotypes for gene: UNC119 were set to Eye Disorders
Structural eye disease v0.2 TYRP1 Ellen McDonagh gene: TYRP1 was added
gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYRP1 was set to
Phenotypes for gene: TYRP1 were set to Eye Disorders
Structural eye disease v0.2 TYR Ellen McDonagh gene: TYR was added
gene: TYR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYR was set to
Phenotypes for gene: TYR were set to Eye Disorders
Structural eye disease v0.2 TULP1 Ellen McDonagh gene: TULP1 was added
gene: TULP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Eye Disorders
Structural eye disease v0.2 TTC8 Ellen McDonagh gene: TTC8 was added
gene: TTC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC8 was set to
Phenotypes for gene: TTC8 were set to Eye Disorders
Structural eye disease v0.2 TTC21B Ellen McDonagh gene: TTC21B was added
gene: TTC21B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC21B was set to
Phenotypes for gene: TTC21B were set to Eye Disorders
Structural eye disease v0.2 TSPAN12 Ellen McDonagh gene: TSPAN12 was added
gene: TSPAN12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TSPAN12 was set to
Phenotypes for gene: TSPAN12 were set to Eye Disorders
Structural eye disease v0.2 TRPM1 Ellen McDonagh gene: TRPM1 was added
gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRPM1 was set to
Phenotypes for gene: TRPM1 were set to Eye Disorders
Structural eye disease v0.2 TRIM44 Ellen McDonagh gene: TRIM44 was added
gene: TRIM44 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM44 were set to 26394807
Phenotypes for gene: TRIM44 were set to ?Aniridia 3
Structural eye disease v0.2 TRIM32 Ellen McDonagh gene: TRIM32 was added
gene: TRIM32 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Eye Disorders
Structural eye disease v0.2 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TPP1 was set to
Phenotypes for gene: TPP1 were set to Eye Disorders
Structural eye disease v0.2 TP53BP2 Ellen McDonagh gene: TP53BP2 was added
gene: TP53BP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TP53BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53BP2 were set to 28150229
Phenotypes for gene: TP53BP2 were set to Primary Open Angle Glaucoma
Structural eye disease v0.2 TOPORS Ellen McDonagh gene: TOPORS was added
gene: TOPORS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Eye Disorders
Structural eye disease v0.2 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 19058225
Phenotypes for gene: TMEM67 were set to COACH syndrome, 216360; Joubert syndrome 6
Structural eye disease v0.2 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM237 were set to 22152675
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Structural eye disease v0.2 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 23349226
Phenotypes for gene: TMEM231 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM138 were set to 22282472
Phenotypes for gene: TMEM138 were set to Joubert syndrome
Structural eye disease v0.2 TMEM126A Ellen McDonagh gene: TMEM126A was added
gene: TMEM126A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM126A was set to
Phenotypes for gene: TMEM126A were set to Eye Disorders
Structural eye disease v0.2 TIMP3 Ellen McDonagh gene: TIMP3 was added
gene: TIMP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMP3 was set to
Phenotypes for gene: TIMP3 were set to Eye Disorders
Structural eye disease v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Eye Disorders
Structural eye disease v0.2 TFAP2A Ellen McDonagh gene: TFAP2A was added
gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFAP2A were set to 10767004, 18423521
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620
Structural eye disease v0.2 TENM3 Ellen McDonagh gene: TENM3 was added
gene: TENM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 22766609, 27103084, 24859618
Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.2 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 25118024
Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV
Structural eye disease v0.2 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 21565611; 25118024
Phenotypes for gene: TCTN2 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN1 were set to 21725307; 22693042
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Structural eye disease v0.2 SPINT2 Ellen McDonagh gene: SPINT2 was added
gene: SPINT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 29575628; 24142340
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; congenital sodium diarrhea with additional features; optic nerve coloboma
Structural eye disease v0.2 SPATA7 Ellen McDonagh gene: SPATA7 was added
gene: SPATA7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Eye Disorders
Structural eye disease v0.2 SNRNP200 Ellen McDonagh gene: SNRNP200 was added
gene: SNRNP200 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SNRNP200 was set to
Phenotypes for gene: SNRNP200 were set to Eye Disorders
Structural eye disease v0.2 SLC45A2 Ellen McDonagh gene: SLC45A2 was added
gene: SLC45A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC45A2 was set to
Phenotypes for gene: SLC45A2 were set to Eye Disorders
Structural eye disease v0.2 SLC24A5 Ellen McDonagh gene: SLC24A5 was added
gene: SLC24A5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A5 was set to
Phenotypes for gene: SLC24A5 were set to Eye Disorders
Structural eye disease v0.2 SLC24A1 Ellen McDonagh gene: SLC24A1 was added
gene: SLC24A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A1 was set to
Phenotypes for gene: SLC24A1 were set to Eye Disorders
Structural eye disease v0.2 SIX3 Ellen McDonagh gene: SIX3 was added
gene: SIX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SIX3 were set to 21976454
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 157170
Structural eye disease v0.2 SEMA4A Ellen McDonagh gene: SEMA4A was added
gene: SEMA4A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SEMA4A was set to
Phenotypes for gene: SEMA4A were set to Eye Disorders
Structural eye disease v0.2 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Phenotypes for gene: SDCCAG8 were set to Eye Disorders
Structural eye disease v0.2 SALL2 Ellen McDonagh gene: SALL2 was added
gene: SALL2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive 216820
Structural eye disease v0.2 SAG Ellen McDonagh gene: SAG was added
gene: SAG was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SAG was set to
Phenotypes for gene: SAG were set to Eye Disorders
Structural eye disease v0.2 RS1 Ellen McDonagh gene: RS1 was added
gene: RS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RS1 was set to
Phenotypes for gene: RS1 were set to Eye Disorders
Structural eye disease v0.2 RPGRIP1 Ellen McDonagh gene: RPGRIP1 was added
gene: RPGRIP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Eye Disorders
Structural eye disease v0.2 RPGR Ellen McDonagh gene: RPGR was added
gene: RPGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGR was set to
Phenotypes for gene: RPGR were set to Eye Disorders
Structural eye disease v0.2 RPE65 Ellen McDonagh gene: RPE65 was added
gene: RPE65 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Eye Disorders
Structural eye disease v0.2 RP9 Ellen McDonagh gene: RP9 was added
gene: RP9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP9 was set to
Phenotypes for gene: RP9 were set to Eye Disorders
Structural eye disease v0.2 RP2 Ellen McDonagh gene: RP2 was added
gene: RP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP2 was set to
Phenotypes for gene: RP2 were set to Eye Disorders
Structural eye disease v0.2 RP1 Ellen McDonagh gene: RP1 was added
gene: RP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP1 was set to
Phenotypes for gene: RP1 were set to Eye Disorders
Structural eye disease v0.2 ROM1 Ellen McDonagh gene: ROM1 was added
gene: ROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ROM1 was set to
Phenotypes for gene: ROM1 were set to Eye Disorders
Structural eye disease v0.2 RLBP1 Ellen McDonagh gene: RLBP1 was added
gene: RLBP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RLBP1 was set to
Phenotypes for gene: RLBP1 were set to Eye Disorders
Structural eye disease v0.2 RIMS1 Ellen McDonagh gene: RIMS1 was added
gene: RIMS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RIMS1 was set to
Phenotypes for gene: RIMS1 were set to Eye Disorders
Structural eye disease v0.2 RHO Ellen McDonagh gene: RHO was added
gene: RHO was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RHO was set to
Phenotypes for gene: RHO were set to Eye Disorders
Structural eye disease v0.2 RGS9BP Ellen McDonagh gene: RGS9BP was added
gene: RGS9BP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9BP was set to
Phenotypes for gene: RGS9BP were set to Eye Disorders
Structural eye disease v0.2 RGS9 Ellen McDonagh gene: RGS9 was added
gene: RGS9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9 was set to
Phenotypes for gene: RGS9 were set to Eye Disorders
Structural eye disease v0.2 RGR Ellen McDonagh gene: RGR was added
gene: RGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGR was set to
Phenotypes for gene: RGR were set to Eye Disorders
Structural eye disease v0.2 RDH5 Ellen McDonagh gene: RDH5 was added
gene: RDH5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH5 was set to
Phenotypes for gene: RDH5 were set to Eye Disorders
Structural eye disease v0.2 RDH12 Ellen McDonagh gene: RDH12 was added
gene: RDH12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Eye Disorders
Structural eye disease v0.2 RD3 Ellen McDonagh gene: RD3 was added
gene: RD3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Eye Disorders
Structural eye disease v0.2 RBP3 Ellen McDonagh gene: RBP3 was added
gene: RBP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RBP3 was set to
Phenotypes for gene: RBP3 were set to Eye Disorders
Structural eye disease v0.2 RAX2 Ellen McDonagh gene: RAX2 was added
gene: RAX2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RAX2 was set to
Phenotypes for gene: RAX2 were set to Eye Disorders
Structural eye disease v0.2 PRPH2 Ellen McDonagh gene: PRPH2 was added
gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPH2 was set to
Phenotypes for gene: PRPH2 were set to Eye Disorders
Structural eye disease v0.2 PRPF8 Ellen McDonagh gene: PRPF8 was added
gene: PRPF8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF8 was set to
Phenotypes for gene: PRPF8 were set to Eye Disorders
Structural eye disease v0.2 PRPF6 Ellen McDonagh gene: PRPF6 was added
gene: PRPF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF6 was set to
Phenotypes for gene: PRPF6 were set to Eye Disorders
Structural eye disease v0.2 PRPF31 Ellen McDonagh gene: PRPF31 was added
gene: PRPF31 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF31 was set to
Phenotypes for gene: PRPF31 were set to Eye Disorders
Structural eye disease v0.2 PRPF3 Ellen McDonagh gene: PRPF3 was added
gene: PRPF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF3 was set to
Phenotypes for gene: PRPF3 were set to Eye Disorders
Structural eye disease v0.2 PROM1 Ellen McDonagh gene: PROM1 was added
gene: PROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PROM1 was set to
Phenotypes for gene: PROM1 were set to Eye Disorders
Structural eye disease v0.2 PRCD Ellen McDonagh gene: PRCD was added
gene: PRCD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRCD was set to
Phenotypes for gene: PRCD were set to Eye Disorders
Structural eye disease v0.2 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PPT1 was set to
Phenotypes for gene: PPT1 were set to Eye Disorders
Structural eye disease v0.2 POLH Ellen McDonagh gene: POLH was added
gene: POLH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: POLH was set to
Structural eye disease v0.2 PLA2G5 Ellen McDonagh gene: PLA2G5 was added
gene: PLA2G5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to
Phenotypes for gene: PLA2G5 were set to Eye Disorders
Structural eye disease v0.2 PITX3 Ellen McDonagh gene: PITX3 was added
gene: PITX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITX3 was set to
Phenotypes for gene: PITX3 were set to Eye Disorders
Structural eye disease v0.2 PITPNM3 Ellen McDonagh gene: PITPNM3 was added
gene: PITPNM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITPNM3 was set to
Phenotypes for gene: PITPNM3 were set to Eye Disorders
Structural eye disease v0.2 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PHYH was set to
Phenotypes for gene: PHYH were set to Eye Disorders
Structural eye disease v0.2 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PEX7 was set to
Phenotypes for gene: PEX7 were set to Eye Disorders
Structural eye disease v0.2 PDZD7 Ellen McDonagh gene: PDZD7 was added
gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDZD7 was set to
Phenotypes for gene: PDZD7 were set to Eye Disorders
Structural eye disease v0.2 PDE6H Ellen McDonagh gene: PDE6H was added
gene: PDE6H was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6H was set to
Phenotypes for gene: PDE6H were set to Eye Disorders
Structural eye disease v0.2 PDE6G Ellen McDonagh gene: PDE6G was added
gene: PDE6G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6G was set to
Phenotypes for gene: PDE6G were set to Eye Disorders
Structural eye disease v0.2 PDE6C Ellen McDonagh gene: PDE6C was added
gene: PDE6C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6C was set to
Phenotypes for gene: PDE6C were set to Eye Disorders
Structural eye disease v0.2 PDE6B Ellen McDonagh gene: PDE6B was added
gene: PDE6B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6B was set to
Phenotypes for gene: PDE6B were set to Eye Disorders
Structural eye disease v0.2 PDE6A Ellen McDonagh gene: PDE6A was added
gene: PDE6A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6A was set to
Phenotypes for gene: PDE6A were set to Eye Disorders
Structural eye disease v0.2 PCDH15 Ellen McDonagh gene: PCDH15 was added
gene: PCDH15 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PCDH15 was set to
Phenotypes for gene: PCDH15 were set to Eye Disorders
Structural eye disease v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA3 was set to
Phenotypes for gene: OPA3 were set to Eye Disorders
Structural eye disease v0.2 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA1 was set to
Phenotypes for gene: OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.2 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OFD1 was set to Other - please specifiy in evaluation comments
Publications for gene: OFD1 were set to 22353940; 19800048
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome I; X-linked Joubert syndrome
Structural eye disease v0.2 OCA2 Ellen McDonagh gene: OCA2 was added
gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OCA2 was set to
Phenotypes for gene: OCA2 were set to Eye Disorders
Structural eye disease v0.2 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Eye Disorders
Structural eye disease v0.2 NYX Ellen McDonagh gene: NYX was added
gene: NYX was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NYX was set to
Phenotypes for gene: NYX were set to Eye Disorders
Structural eye disease v0.2 NTF4 Ellen McDonagh gene: NTF4 was added
gene: NTF4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NTF4 was set to
Phenotypes for gene: NTF4 were set to Glaucoma 1, open angle, 1O, 613100
Structural eye disease v0.2 NRL Ellen McDonagh gene: NRL was added
gene: NRL was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NRL was set to
Phenotypes for gene: NRL were set to Eye Disorders
Structural eye disease v0.2 NR2E3 Ellen McDonagh gene: NR2E3 was added
gene: NR2E3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NR2E3 was set to
Phenotypes for gene: NR2E3 were set to Eye Disorders
Structural eye disease v0.2 NPHP4 Ellen McDonagh gene: NPHP4 was added
gene: NPHP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP4 was set to
Phenotypes for gene: NPHP4 were set to Eye Disorders
Structural eye disease v0.2 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP3 was set to
Phenotypes for gene: NPHP3 were set to Eye Disorders
Structural eye disease v0.2 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 15689444; 15138899; 22982934
Phenotypes for gene: NPHP1 were set to Joubert syndrome, Nephronophthisis
Structural eye disease v0.2 NDP Ellen McDonagh gene: NDP was added
gene: NDP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NDP was set to
Phenotypes for gene: NDP were set to Eye Disorders
Structural eye disease v0.2 NAA10 Ellen McDonagh gene: NAA10 was added
gene: NAA10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NAA10 were set to 24431331, 20301694
Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic 1, 309800
Structural eye disease v0.2 MYO7A Ellen McDonagh gene: MYO7A was added
gene: MYO7A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MYO7A was set to
Phenotypes for gene: MYO7A were set to Eye Disorders
Structural eye disease v0.2 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MTTP was set to
Phenotypes for gene: MTTP were set to Eye Disorders
Structural eye disease v0.2 MPLKIP Ellen McDonagh gene: MPLKIP was added
gene: MPLKIP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MPLKIP was set to
Structural eye disease v0.2 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKS1 was set to
Phenotypes for gene: MKS1 were set to Eye Disorders
Structural eye disease v0.2 MKKS Ellen McDonagh gene: MKKS was added
gene: MKKS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKKS was set to
Phenotypes for gene: MKKS were set to Eye Disorders
Structural eye disease v0.2 MIR204 Ellen McDonagh gene: MIR204 was added
gene: MIR204 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract 616722
Structural eye disease v0.2 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFSD8 was set to
Phenotypes for gene: MFSD8 were set to Eye Disorders
Structural eye disease v0.2 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFN2 was set to
Phenotypes for gene: MFN2 were set to Eye Disorders
Structural eye disease v0.2 MERTK Ellen McDonagh gene: MERTK was added
gene: MERTK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MERTK was set to
Phenotypes for gene: MERTK were set to Eye Disorders
Structural eye disease v0.2 MAK Ellen McDonagh gene: MAK was added
gene: MAK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MAK was set to
Phenotypes for gene: MAK were set to Eye Disorders
Structural eye disease v0.2 LZTFL1 Ellen McDonagh gene: LZTFL1 was added
gene: LZTFL1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LZTFL1 was set to
Phenotypes for gene: LZTFL1 were set to Eye Disorders
Structural eye disease v0.2 LRP5 Ellen McDonagh gene: LRP5 was added
gene: LRP5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRP5 was set to
Phenotypes for gene: LRP5 were set to Eye Disorders
Structural eye disease v0.2 LRMDA Ellen McDonagh gene: LRMDA was added
gene: LRMDA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRMDA was set to
Phenotypes for gene: LRMDA were set to Eye Disorders
Structural eye disease v0.2 LRIT3 Ellen McDonagh gene: LRIT3 was added
gene: LRIT3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRIT3 was set to
Phenotypes for gene: LRIT3 were set to Eye Disorders
Structural eye disease v0.2 LRAT Ellen McDonagh gene: LRAT was added
gene: LRAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Eye Disorders
Structural eye disease v0.2 LCA5 Ellen McDonagh gene: LCA5 was added
gene: LCA5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Eye Disorders
Structural eye disease v0.2 KLHL7 Ellen McDonagh gene: KLHL7 was added
gene: KLHL7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KLHL7 was set to
Phenotypes for gene: KLHL7 were set to Eye Disorders
Structural eye disease v0.2 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21633164
Phenotypes for gene: KIF7 were set to Joubert syndrome; Acrocallosal syndrome
Structural eye disease v0.2 KCTD7 Ellen McDonagh gene: KCTD7 was added
gene: KCTD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCTD7 was set to
Phenotypes for gene: KCTD7 were set to Eye Disorders
Structural eye disease v0.2 KCNV2 Ellen McDonagh gene: KCNV2 was added
gene: KCNV2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNV2 was set to
Phenotypes for gene: KCNV2 were set to Eye Disorders
Structural eye disease v0.2 KCNJ13 Ellen McDonagh gene: KCNJ13 was added
gene: KCNJ13 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Eye Disorders
Structural eye disease v0.2 IQCB1 Ellen McDonagh gene: IQCB1 was added
gene: IQCB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IQCB1 was set to
Phenotypes for gene: IQCB1 were set to Eye Disorders
Structural eye disease v0.2 INVS Ellen McDonagh gene: INVS was added
gene: INVS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INVS was set to
Phenotypes for gene: INVS were set to Eye Disorders
Structural eye disease v0.2 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 23386033; 26748598
Phenotypes for gene: INPP5E were set to Joubert syndrome
Structural eye disease v0.2 IMPG2 Ellen McDonagh gene: IMPG2 was added
gene: IMPG2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPG2 was set to
Phenotypes for gene: IMPG2 were set to Eye Disorders
Structural eye disease v0.2 IMPDH1 Ellen McDonagh gene: IMPDH1 was added
gene: IMPDH1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Eye Disorders
Structural eye disease v0.2 IDH3B Ellen McDonagh gene: IDH3B was added
gene: IDH3B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IDH3B was set to
Phenotypes for gene: IDH3B were set to Eye Disorders
Structural eye disease v0.2 HMGB3 Ellen McDonagh gene: HMGB3 was added
gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 4998085
Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915
Structural eye disease v0.2 HDAC6 Ellen McDonagh gene: HDAC6 was added
gene: HDAC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HDAC6 was set to
Phenotypes for gene: HDAC6 were set to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Structural eye disease v0.2 HARS Ellen McDonagh gene: HARS was added
gene: HARS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HARS was set to
Phenotypes for gene: HARS were set to Eye Disorders
Structural eye disease v0.2 GUCY2D Ellen McDonagh gene: GUCY2D was added
gene: GUCY2D was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Eye Disorders
Structural eye disease v0.2 GUCA1B Ellen McDonagh gene: GUCA1B was added
gene: GUCA1B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1B was set to
Phenotypes for gene: GUCA1B were set to Eye Disorders
Structural eye disease v0.2 GUCA1A Ellen McDonagh gene: GUCA1A was added
gene: GUCA1A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1A was set to
Phenotypes for gene: GUCA1A were set to Eye Disorders
Structural eye disease v0.2 GTF2H5 Ellen McDonagh gene: GTF2H5 was added
gene: GTF2H5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GTF2H5 was set to
Structural eye disease v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRN was set to
Phenotypes for gene: GRN were set to Eye Disorders
Structural eye disease v0.2 GRM6 Ellen McDonagh gene: GRM6 was added
gene: GRM6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRM6 was set to
Phenotypes for gene: GRM6 were set to Eye Disorders
Structural eye disease v0.2 GPR179 Ellen McDonagh gene: GPR179 was added
gene: GPR179 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR179 was set to
Phenotypes for gene: GPR179 were set to Eye Disorders
Structural eye disease v0.2 GPR143 Ellen McDonagh gene: GPR143 was added
gene: GPR143 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR143 was set to
Phenotypes for gene: GPR143 were set to Eye Disorders
Structural eye disease v0.2 GNAT2 Ellen McDonagh gene: GNAT2 was added
gene: GNAT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT2 was set to
Phenotypes for gene: GNAT2 were set to Eye Disorders
Structural eye disease v0.2 GNAT1 Ellen McDonagh gene: GNAT1 was added
gene: GNAT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT1 was set to
Phenotypes for gene: GNAT1 were set to Eye Disorders
Structural eye disease v0.2 GDF6 Ellen McDonagh gene: GDF6 was added
gene: GDF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF6 was set to
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant, 118100
Structural eye disease v0.2 GDF3 Ellen McDonagh gene: GDF3 was added
gene: GDF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF3 was set to
Phenotypes for gene: GDF3 were set to Klippel-Feil syndrome 3, autosomal dominant, 613702
Structural eye disease v0.2 FZD4 Ellen McDonagh gene: FZD4 was added
gene: FZD4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FZD4 was set to
Phenotypes for gene: FZD4 were set to Eye Disorders
Structural eye disease v0.2 FSCN2 Ellen McDonagh gene: FSCN2 was added
gene: FSCN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FSCN2 was set to
Phenotypes for gene: FSCN2 were set to Eye Disorders
Structural eye disease v0.2 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FLVCR1 was set to
Phenotypes for gene: FLVCR1 were set to Eye Disorders
Structural eye disease v0.2 FAM161A Ellen McDonagh gene: FAM161A was added
gene: FAM161A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FAM161A was set to
Phenotypes for gene: FAM161A were set to Eye Disorders
Structural eye disease v0.2 EYS Ellen McDonagh gene: EYS was added
gene: EYS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EYS was set to
Phenotypes for gene: EYS were set to Eye Disorders
Structural eye disease v0.2 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC8 was set to
Structural eye disease v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Cerebrooculofacioskeletal Syndrome
Structural eye disease v0.2 ERCC5 Ellen McDonagh gene: ERCC5 was added
gene: ERCC5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC5 was set to
Structural eye disease v0.2 ERCC4 Ellen McDonagh gene: ERCC4 was added
gene: ERCC4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC4 was set to
Structural eye disease v0.2 ERCC3 Ellen McDonagh gene: ERCC3 was added
gene: ERCC3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC3 was set to
Structural eye disease v0.2 ERCC2 Ellen McDonagh gene: ERCC2 was added
gene: ERCC2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC2 was set to
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
Structural eye disease v0.2 ERCC1 Ellen McDonagh gene: ERCC1 was added
gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC1 was set to
Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758
Structural eye disease v0.2 ELP4 Ellen McDonagh gene: ELP4 was added
gene: ELP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376
Phenotypes for gene: ELP4 were set to ?Aniridia 2
Structural eye disease v0.2 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to
Phenotypes for gene: ELOVL4 were set to Eye Disorders
Structural eye disease v0.2 EFEMP1 Ellen McDonagh gene: EFEMP1 was added
gene: EFEMP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EFEMP1 was set to
Phenotypes for gene: EFEMP1 were set to Eye Disorders
Structural eye disease v0.2 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DHDDS was set to
Phenotypes for gene: DHDDS were set to Eye Disorders
Structural eye disease v0.2 DDB2 Ellen McDonagh gene: DDB2 was added
gene: DDB2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB2 was set to
Structural eye disease v0.2 DDB1 Ellen McDonagh gene: DDB1 was added
gene: DDB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB1 was set to
Structural eye disease v0.2 CYP4V2 Ellen McDonagh gene: CYP4V2 was added
gene: CYP4V2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP4V2 was set to
Phenotypes for gene: CYP4V2 were set to Eye Disorders
Structural eye disease v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Eye Disorders
Structural eye disease v0.2 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CTSD was set to
Phenotypes for gene: CTSD were set to Eye Disorders
Structural eye disease v0.2 CRX Ellen McDonagh gene: CRX was added
gene: CRX was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CRX was set to
Phenotypes for gene: CRX were set to Eye Disorders
Structural eye disease v0.2 CRB1 Ellen McDonagh gene: CRB1 was added
gene: CRB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CRB1 was set to
Phenotypes for gene: CRB1 were set to Eye Disorders
Structural eye disease v0.2 COL9A2 Ellen McDonagh gene: COL9A2 was added
gene: COL9A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL9A2 was set to
Phenotypes for gene: COL9A2 were set to Eye Disorders
Structural eye disease v0.2 COL9A1 Ellen McDonagh gene: COL9A1 was added
gene: COL9A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL9A1 was set to
Phenotypes for gene: COL9A1 were set to Eye Disorders
Structural eye disease v0.2 COL2A1 Ellen McDonagh gene: COL2A1 was added
gene: COL2A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL2A1 was set to
Phenotypes for gene: COL2A1 were set to Eye Disorders
Structural eye disease v0.2 COL11A2 Ellen McDonagh gene: COL11A2 was added
gene: COL11A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL11A2 was set to
Phenotypes for gene: COL11A2 were set to Eye Disorders
Structural eye disease v0.2 COL11A1 Ellen McDonagh gene: COL11A1 was added
gene: COL11A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL11A1 was set to
Phenotypes for gene: COL11A1 were set to Eye Disorders
Structural eye disease v0.2 CNNM4 Ellen McDonagh gene: CNNM4 was added
gene: CNNM4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNNM4 was set to
Phenotypes for gene: CNNM4 were set to Eye Disorders
Structural eye disease v0.2 CNGB3 Ellen McDonagh gene: CNGB3 was added
gene: CNGB3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGB3 was set to
Phenotypes for gene: CNGB3 were set to Eye Disorders
Structural eye disease v0.2 CNGB1 Ellen McDonagh gene: CNGB1 was added
gene: CNGB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGB1 was set to
Phenotypes for gene: CNGB1 were set to Eye Disorders
Structural eye disease v0.2 CNGA3 Ellen McDonagh gene: CNGA3 was added
gene: CNGA3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGA3 was set to
Phenotypes for gene: CNGA3 were set to Eye Disorders
Structural eye disease v0.2 CNGA1 Ellen McDonagh gene: CNGA1 was added
gene: CNGA1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGA1 was set to
Phenotypes for gene: CNGA1 were set to Eye Disorders
Structural eye disease v0.2 CLRN1 Ellen McDonagh gene: CLRN1 was added
gene: CLRN1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLRN1 was set to
Phenotypes for gene: CLRN1 were set to Eye Disorders
Structural eye disease v0.2 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN8 was set to
Phenotypes for gene: CLN8 were set to Eye Disorders
Structural eye disease v0.2 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN6 was set to
Phenotypes for gene: CLN6 were set to Eye Disorders
Structural eye disease v0.2 CLN5 Ellen McDonagh gene: CLN5 was added
gene: CLN5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN5 was set to
Phenotypes for gene: CLN5 were set to Eye Disorders
Structural eye disease v0.2 CLN3 Ellen McDonagh gene: CLN3 was added
gene: CLN3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN3 was set to
Phenotypes for gene: CLN3 were set to Eye Disorders
Structural eye disease v0.2 CIB2 Ellen McDonagh gene: CIB2 was added
gene: CIB2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CIB2 was set to
Phenotypes for gene: CIB2 were set to Eye Disorders
Structural eye disease v0.2 CHM Ellen McDonagh gene: CHM was added
gene: CHM was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CHM was set to
Phenotypes for gene: CHM were set to Eye Disorders
Structural eye disease v0.2 CERKL Ellen McDonagh gene: CERKL was added
gene: CERKL was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CERKL was set to
Phenotypes for gene: CERKL were set to Eye Disorders
Structural eye disease v0.2 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP41 were set to 22246503
Phenotypes for gene: CEP41 were set to Joubert syndrome
Structural eye disease v0.2 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5
Structural eye disease v0.2 CDHR1 Ellen McDonagh gene: CDHR1 was added
gene: CDHR1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDHR1 was set to
Phenotypes for gene: CDHR1 were set to Eye Disorders
Structural eye disease v0.2 CDH3 Ellen McDonagh gene: CDH3 was added
gene: CDH3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDH3 was set to
Phenotypes for gene: CDH3 were set to Eye Disorders
Structural eye disease v0.2 CDH23 Ellen McDonagh gene: CDH23 was added
gene: CDH23 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDH23 was set to
Phenotypes for gene: CDH23 were set to Eye Disorders
Structural eye disease v0.2 CACNA2D4 Ellen McDonagh gene: CACNA2D4 was added
gene: CACNA2D4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CACNA2D4 was set to
Phenotypes for gene: CACNA2D4 were set to Eye Disorders
Structural eye disease v0.2 CACNA1F Ellen McDonagh gene: CACNA1F was added
gene: CACNA1F was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CACNA1F was set to
Phenotypes for gene: CACNA1F were set to Eye Disorders
Structural eye disease v0.2 CABP4 Ellen McDonagh gene: CABP4 was added
gene: CABP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CABP4 was set to
Phenotypes for gene: CABP4 were set to Eye Disorders
Structural eye disease v0.2 CA4 Ellen McDonagh gene: CA4 was added
gene: CA4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CA4 was set to
Phenotypes for gene: CA4 were set to Eye Disorders
Structural eye disease v0.2 C8orf37 Ellen McDonagh gene: C8orf37 was added
gene: C8orf37 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C8orf37 was set to
Phenotypes for gene: C8orf37 were set to Eye Disorders
Structural eye disease v0.2 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C5orf42 were set to 22425360; 22693042; 25920555
Phenotypes for gene: C5orf42 were set to Oral-facial-digital syndrome type VI; Joubert syndrome
Structural eye disease v0.2 C2orf71 Ellen McDonagh gene: C2orf71 was added
gene: C2orf71 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C2orf71 was set to
Phenotypes for gene: C2orf71 were set to Eye Disorders
Structural eye disease v0.2 C1QTNF5 Ellen McDonagh gene: C1QTNF5 was added
gene: C1QTNF5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C1QTNF5 was set to
Phenotypes for gene: C1QTNF5 were set to Eye Disorders
Structural eye disease v0.2 BMPR1A Ellen McDonagh gene: BMPR1A was added
gene: BMPR1A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BMPR1A was set to
Structural eye disease v0.2 BMP7 Ellen McDonagh gene: BMP7 was added
gene: BMP7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 20506283
Structural eye disease v0.2 BEST1 Ellen McDonagh gene: BEST1 was added
gene: BEST1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BEST1 was set to
Phenotypes for gene: BEST1 were set to Eye Disorders
Structural eye disease v0.2 BBS9 Ellen McDonagh gene: BBS9 was added
gene: BBS9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS9 was set to
Phenotypes for gene: BBS9 were set to Eye Disorders
Structural eye disease v0.2 BBS7 Ellen McDonagh gene: BBS7 was added
gene: BBS7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS7 was set to
Phenotypes for gene: BBS7 were set to Eye Disorders
Structural eye disease v0.2 BBS5 Ellen McDonagh gene: BBS5 was added
gene: BBS5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS5 was set to
Phenotypes for gene: BBS5 were set to Eye Disorders
Structural eye disease v0.2 BBS4 Ellen McDonagh gene: BBS4 was added
gene: BBS4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS4 was set to
Phenotypes for gene: BBS4 were set to Eye Disorders
Structural eye disease v0.2 BBS2 Ellen McDonagh gene: BBS2 was added
gene: BBS2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS2 was set to
Phenotypes for gene: BBS2 were set to Eye Disorders
Structural eye disease v0.2 BBS12 Ellen McDonagh gene: BBS12 was added
gene: BBS12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS12 was set to
Phenotypes for gene: BBS12 were set to Eye Disorders
Structural eye disease v0.2 BBS10 Ellen McDonagh gene: BBS10 was added
gene: BBS10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS10 was set to
Phenotypes for gene: BBS10 were set to Eye Disorders
Structural eye disease v0.2 BBS1 Ellen McDonagh gene: BBS1 was added
gene: BBS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS1 was set to
Phenotypes for gene: BBS1 were set to Eye Disorders
Structural eye disease v0.2 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: B3GLCT was set to
Phenotypes for gene: B3GLCT were set to Eye Disorders
Structural eye disease v0.2 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ATP13A2 was set to
Phenotypes for gene: ATP13A2 were set to Eye Disorders
Structural eye disease v0.2 ATOH7 Ellen McDonagh gene: ATOH7 was added
gene: ATOH7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH7 were set to 1838; 8779
Phenotypes for gene: ATOH7 were set to AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
Structural eye disease v0.2 ASB10 Ellen McDonagh gene: ASB10 was added
gene: ASB10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ASB10 was set to
Phenotypes for gene: ASB10 were set to Glaucoma 1, open angle, F, 603383
Structural eye disease v0.2 ARL6 Ellen McDonagh gene: ARL6 was added
gene: ARL6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL6 was set to
Phenotypes for gene: ARL6 were set to Eye Disorders
Structural eye disease v0.2 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 18674751; 25138100
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Structural eye disease v0.2 ALMS1 Ellen McDonagh gene: ALMS1 was added
gene: ALMS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ALMS1 was set to
Phenotypes for gene: ALMS1 were set to Eye Disorders
Structural eye disease v0.2 AIPL1 Ellen McDonagh gene: AIPL1 was added
gene: AIPL1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: AIPL1 was set to
Phenotypes for gene: AIPL1 were set to Eye Disorders
Structural eye disease v0.2 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Structural eye disease v0.2 ADGRV1 Ellen McDonagh gene: ADGRV1 was added
gene: ADGRV1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ADGRV1 was set to
Phenotypes for gene: ADGRV1 were set to Eye Disorders
Structural eye disease v0.2 ADAM9 Ellen McDonagh gene: ADAM9 was added
gene: ADAM9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ADAM9 was set to
Phenotypes for gene: ADAM9 were set to Eye Disorders
Structural eye disease v0.2 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABHD12 was set to
Phenotypes for gene: ABHD12 were set to Eye Disorders
Structural eye disease v0.2 ABCB6 Ellen McDonagh gene: ABCB6 was added
gene: ABCB6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABCB6 was set to
Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402
Structural eye disease v0.2 ABCA4 Ellen McDonagh gene: ABCA4 was added
gene: ABCA4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABCA4 was set to
Phenotypes for gene: ABCA4 were set to Eye Disorders
Structural eye disease v0.2 TUBGCP4 Ellen McDonagh gene: TUBGCP4 was added
gene: TUBGCP4 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Structural eye disease v0.2 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 9888420
Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Structural eye disease v0.2 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Structural eye disease v0.2 MAF Ellen McDonagh gene: MAF was added
gene: MAF was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAF were set to 11772997
Phenotypes for gene: MAF were set to Cataract 21, multiple types 610202
Structural eye disease v0.2 LRP2 Ellen McDonagh gene: LRP2 was added
gene: LRP2 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to 17632512, 8266995
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448
Structural eye disease v0.2 IGBP1 Ellen McDonagh gene: IGBP1 was added
gene: IGBP1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: IGBP1 was set to
Phenotypes for gene: IGBP1 were set to Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Structural eye disease v0.2 HMX1 Ellen McDonagh gene: HMX1 was added
gene: HMX1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: HMX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HMX1 were set to 18423520; 21417677; 25574057
Phenotypes for gene: HMX1 were set to Oculoauricular syndrome 612109
Structural eye disease v0.2 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 21273537; 25976645
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Structural eye disease v0.2 DDX58 Ellen McDonagh gene: DDX58 was added
gene: DDX58 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to 3588; 25620203; 2509
Phenotypes for gene: DDX58 were set to Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.
Structural eye disease v0.2 YAP1 Ellen McDonagh gene: YAP1 was added
gene: YAP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YAP1 were set to 24462371; 27267789; 26209646
Phenotypes for gene: YAP1 were set to isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
Structural eye disease v0.2 VSX2 Ellen McDonagh gene: VSX2 was added
gene: VSX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VSX2 were set to 10932181, 24859618
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092
Structural eye disease v0.2 TMEM98 Ellen McDonagh gene: TMEM98 was added
gene: TMEM98 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM98 were set to 26392740; 24852644
Phenotypes for gene: TMEM98 were set to NNO4; Nanophthalmos 4, 615972
Structural eye disease v0.2 TBC1D20 Ellen McDonagh gene: TBC1D20 was added
gene: TBC1D20 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, 615663
Structural eye disease v0.2 STRA6 Ellen McDonagh gene: STRA6 was added
gene: STRA6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 17273977, 24859618
Phenotypes for gene: STRA6 were set to Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186
Structural eye disease v0.2 SOX2 Ellen McDonagh gene: SOX2 was added
gene: SOX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to 12612584, 24859618
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 206900
Structural eye disease v0.2 SMOC1 Ellen McDonagh gene: SMOC1 was added
gene: SMOC1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to Microphthalmia with limb anomalies, 206920
Structural eye disease v0.2 SMO Ellen McDonagh gene: SMO was added
gene: SMO was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMO were set to 27236920
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic 601707
Structural eye disease v0.2 SIX6 Ellen McDonagh gene: SIX6 was added
gene: SIX6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SIX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIX6 were set to 23167593, 24702266
Phenotypes for gene: SIX6 were set to Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia
Structural eye disease v0.2 SHH Ellen McDonagh gene: SHH was added
gene: SHH was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160
Structural eye disease v0.2 SALL4 Ellen McDonagh gene: SALL4 was added
gene: SALL4 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL4 were set to 12843316, 6426304
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323
Structural eye disease v0.2 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 19574260
Phenotypes for gene: RPGRIP1L were set to COACH syndrome, 216360
Structural eye disease v0.2 RAX Ellen McDonagh gene: RAX was added
gene: RAX was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Anophthalmia/Microphthalmia
Structural eye disease v0.2 RARB Ellen McDonagh gene: RARB was added
gene: RARB was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24859618
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524
Structural eye disease v0.2 RAB3GAP2 Ellen McDonagh gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Structural eye disease v0.2 RAB3GAP1 Ellen McDonagh gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118; Warburg Micro Syndrome
Structural eye disease v0.2 RAB18 Ellen McDonagh gene: RAB18 was added
gene: RAB18 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222; Warburg Micro Syndrome
Structural eye disease v0.2 PUF60 Ellen McDonagh gene: PUF60 was added
gene: PUF60 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to 19464398; 24140112; 27804958; 28327570
Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome
Structural eye disease v0.2 PRSS56 Ellen McDonagh gene: PRSS56 was added
gene: PRSS56 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to Microphthalmia, isolated 6, 613517
Structural eye disease v0.2 PORCN Ellen McDonagh gene: PORCN was added
gene: PORCN was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PORCN were set to 17546030, 24859618
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600
Structural eye disease v0.2 PAX2 Ellen McDonagh gene: PAX2 was added
gene: PAX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 8589702
Phenotypes for gene: PAX2 were set to Papillorenal syndrome 120330
Structural eye disease v0.2 OTX2 Ellen McDonagh gene: OTX2 was added
gene: OTX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 15846561, 18781617,24859618
Phenotypes for gene: OTX2 were set to OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125
Structural eye disease v0.2 MYOC Ellen McDonagh gene: MYOC was added
gene: MYOC was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOC were set to 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365
Phenotypes for gene: MYOC were set to Glaucoma 1A, primary open angle, 137750
Structural eye disease v0.2 MFRP Ellen McDonagh gene: MFRP was added
gene: MFRP was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, 611040; Isolated Microphthalmia
Structural eye disease v0.2 MAB21L2 Ellen McDonagh gene: MAB21L2 was added
gene: MAB21L2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAB21L2 were set to 24906020; 25719200
Phenotypes for gene: MAB21L2 were set to Microphthalmia, syndromic 14, 615877
Structural eye disease v0.2 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HCCS were set to 17033964, 24859618
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801; Microphthalmia, syndromic 7, 309801
Structural eye disease v0.2 GRIP1 Ellen McDonagh gene: GRIP1 was added
gene: GRIP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIP1 were set to Eye Disorders
Structural eye disease v0.2 FREM2 Ellen McDonagh gene: FREM2 was added
gene: FREM2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Eye Disorders
Structural eye disease v0.2 FREM1 Ellen McDonagh gene: FREM1 was added
gene: FREM1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.2 FRAS1 Ellen McDonagh gene: FRAS1 was added
gene: FRAS1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.2 FOXE3 Ellen McDonagh gene: FOXE3 was added
gene: FOXE3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 11159941; 21150893; 27218149; 16826526; 20361012; 24859618, 19708017
Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250
Structural eye disease v0.2 FOXD3 Ellen McDonagh gene: FOXD3 was added
gene: FOXD3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXD3 were set to 22815627
Phenotypes for gene: FOXD3 were set to aniridia; Peters anomaly; Anterior segment dysgenesis
Structural eye disease v0.2 FOXC1 Ellen McDonagh gene: FOXC1 was added
gene: FOXC1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 9620769; 10713890; 12036988; 17210863; 12614756; 11007653
Phenotypes for gene: FOXC1 were set to Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482
Structural eye disease v0.2 CYP1B1 Ellen McDonagh gene: CYP1B1 was added
gene: CYP1B1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP1B1 were set to 9463332; 9097971; 9497261; 12372064
Phenotypes for gene: CYP1B1 were set to Glaucoma 3, Primary Congenital, A; GLC3A; 231300; Peters anomaly, 604229; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; primary congenital glaucoma; Primary Congenital Glaucoma
Structural eye disease v0.2 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.2 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971, 500385
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190
Structural eye disease v0.2 CHD7 Ellen McDonagh gene: CHD7 was added
gene: CHD7 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800
Mode of pathogenicity for gene: CHD7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v0.2 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 19574260
Phenotypes for gene: CC2D2A were set to COACH syndrome, 216360
Structural eye disease v0.2 C12orf57 Ellen McDonagh gene: C12orf57 was added
gene: C12orf57 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 23453665, 24859618
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340
Structural eye disease v0.2 BMP4 Ellen McDonagh gene: BMP4 was added
gene: BMP4 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 18252212, 2427285
Phenotypes for gene: BMP4 were set to Orofacial cleft 11, 600625; BMP4-Related Syndromic Microphthalmia; Microphthalmia, syndromic 6, 607932
Structural eye disease v0.2 BCOR Ellen McDonagh gene: BCOR was added
gene: BCOR was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to Microphthalmia, syndromic 2, 300166
Structural eye disease v0.2 B3GALT1 Ellen McDonagh gene: B3GALT1 was added
gene: B3GALT1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: B3GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT1 were set to 16909395
Phenotypes for gene: B3GALT1 were set to Peters-plus syndrome, 261540
Structural eye disease v0.2 ALDH1A3 Ellen McDonagh gene: ALDH1A3 was added
gene: ALDH1A3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 24859610; 23591992
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8 615113
Structural eye disease v0.2 ADAMTS17 Ellen McDonagh gene: ADAMTS17 was added
gene: ADAMTS17 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 6506; 19836009; 2268
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Structural eye disease v0.2 ADAMTS10 Ellen McDonagh gene: ADAMTS10 was added
gene: ADAMTS10 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS10 were set to 18567016; 19836009; 15368195
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive
Structural eye disease v0.2 ACTG1 Ellen McDonagh gene: ACTG1 was added
gene: ACTG1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG1 were set to 22366783
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, 614583
Structural eye disease v0.2 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 2505231
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.2 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX6 were set to 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041
Phenotypes for gene: PAX6 were set to Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Structural eye disease v0.2 ISCA-37393-Gain Ellen McDonagh Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Structural eye disease. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 22890013; 11693792; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to 115470; PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome
Structural eye disease v0.2 PITX2 Ellen McDonagh gene: PITX2 was added
gene: PITX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX2 were set to 9685346; 9618168; 10051017; 8944018; 18723525; 11487566
Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500
Structural eye disease v0.2 OPTN Ellen McDonagh gene: OPTN was added
gene: OPTN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OPTN were set to 11834836
Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.0 Ellen McDonagh Added Panel Structural eye disease
Set panel types to: GMS Rare Disease