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| Anophthalmia or microphthalmia v1.51 | CAPN15 | Eleanor Williams Classified gene: CAPN15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.51 | CAPN15 | Eleanor Williams Added comment: Comment on list classification: Removed for-review tag and promoting this gene to green as this is a 100K only panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.51 | CAPN15 | Eleanor Williams Gene: capn15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.50 | CAPN15 | Eleanor Williams Tag for-review was removed from gene: CAPN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.50 | RAX | Sarah Leigh Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.49 | RAX | Sarah Leigh Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.48 | RAX | Sarah Leigh Phenotypes for gene: RAX were changed from Anophthalmia/Microphthalmia to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.47 | RAX | Sarah Leigh Publications for gene: RAX were set to 30811539; 18783408; 14662654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.46 | RAX | Sarah Leigh Publications for gene: RAX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.45 | FAT1 | Arina Puzriakova Tag gene-checked tag was added to gene: FAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.45 | SIX6 |
Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BIALLELIC, autosomal or pseudoautosomal". Review copied from Structural eye disease panel: "Aldamesh (2013) reported one family; Yariz (2015) one family; Patel (2018) one family), all three variants homozygous. Gallardo reported a heterozygous variant in a patient with bilateral microphthalmia, inherited from the unaffected father. This variant has now been reclassified on OMIM as VUS. Mode of inheritance should be changed. Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust), 19 Jun 2019" |
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| Anophthalmia or microphthalmia v1.45 | SIX6 | Ivone Leong Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.44 | SIX6 | Ivone Leong Phenotypes for gene: SIX6 were changed from Anophthalmia/Microphthalmia; Microphthalmia with cataract 2, 212550 to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.43 | RAB3GAP2 | Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from Warburg Micro Syndrome; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.42 | FOXE3 | Eleanor Williams Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Ocular anterior segment dysgenesis, HP:0007700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.41 | FOXE3 | Eleanor Williams Added comment: Comment on mode of inheritance: Only 1 monoallelic case reported with microphthalmia so leaving the mode of inheritance as biallelic for now (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). See full review on on the Structural eye disease panel for all monoallelic cases https://panelapp.genomicsengland.co.uk/panels/509/gene/FOXE3/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.41 | FOXE3 | Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.40 | CAPN15 | Arina Puzriakova edited their review of gene: CAPN15: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.40 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.40 | CAPN15 | Arina Puzriakova Publications for gene: CAPN15 were set to 32885237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.39 | CAPN15 | Arina Puzriakova Added comment: Comment on phenotypes: CAPN15 is now associated with a relevant phenotype in OMIM - 'Oculogastrointestinal neurodevelopmental syndrome', MIM# 619318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.39 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.38 | TMEM98 | Arina Puzriakova Phenotypes for gene: TMEM98 were changed from Nanophthalmos 4, 615972; NNO4 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.37 | TENM3 | Arina Puzriakova Publications for gene: TENM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.36 | TENM3 | Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, syndromic 15, 615145; ?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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.35 | PLK4 | Ivone Leong Classified gene: PLK4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.35 | PLK4 | Ivone Leong Gene: plk4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.34 | PLK4 |
Ivone Leong gene: PLK4 was added gene: PLK4 was added to Anophthalmia or microphthalmia. 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 |
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| Anophthalmia or microphthalmia v1.33 | FAT1 | Ivone Leong Publications for gene: FAT1 were set to 30862798; 26905694 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.32 | FAT1 | Ivone Leong Classified gene: FAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.32 | FAT1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence for this gene to be Green on this panel. This is also a Green gene on the GMS Structural eye disease (Version 1.22) with the following review: "DB Lahrouchi: five families; Ciani mouse mouse model Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust), 19 Jun 2019" |
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| Anophthalmia or microphthalmia v1.32 | FAT1 | Ivone Leong Gene: fat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.31 | CAPN15 | Eleanor Williams Classified gene: CAPN15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.31 | CAPN15 | Eleanor Williams Added comment: Comment on list classification: Promoting gene from red to amber, but with recommendation for green rating following next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.31 | CAPN15 | Eleanor Williams Gene: capn15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.30 | CAPN15 | Eleanor Williams Tag for-review tag was added to gene: CAPN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.30 | CAPN15 |
Eleanor Williams gene: CAPN15 was added gene: CAPN15 was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589 Review for gene: CAPN15 was set to GREEN Added comment: 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. Sources: Literature |
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| Anophthalmia or microphthalmia v1.29 | FOXC1 | Eleanor Williams Publications for gene: FOXC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.28 | FOXC1 | Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.28 | TENM3 | Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia isolated with coloboma 9 to Microphthalmia, syndromic 15, 615145; ?Microphthalmia, isolated, with coloboma 9, 615145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.27 | TENM3 | Arina Puzriakova Mode of inheritance for gene: TENM3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.26 | TENM3 | Arina Puzriakova Classified gene: TENM3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.26 | TENM3 | Arina Puzriakova Gene: tenm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.25 | TENM3 |
Arina Puzriakova changed review comment from: PMID: 22766609 (2012) - Two affected sibs from a consanguineous Saudi family, with nonsyndromic bilateral microphthalmia, iris and retinal coloboma, and microcornea. Normal cognitive development was noted in both sibs. A homozygous 1 bp insertion (c.2083dup, p.T695Nfs*5) in the TENM3 gene, causing a frameshift predicted to result in premature truncation of the resulting protein, segregated with the phenotype. No other pathogenic variant were identified in any of the known microphthalmia genes. PMID: 27103084 (2016) - In a patient with bilateral colobomatous microphthalmia authors identified a segregating homozygous splice site variant (c.2968‐2A>T, p.Val990Cysfs*13) in the TENM3 gene. His development was delayed, and he entered a specialised institution at the age of eight because of his apparent ID. PMID: 30513139 (2018) - In two sisters with ocular coloboma and microcornea, but without microphthalmia, WES revealed a homozygous TENM3 variant (c.1857T>A, p. Cys619*). Sanger sequencing confirmed the parents were heterozygous carriers. Patient cells were not available for functional study of the variant. The older child (5.5 years old) was said to have global developmental delay; while the younger child (4 years 3 months old) had mild motor delay and spoke only few words, but cognition was reported normal. PMID: 29753094 (2019) - 9-year-old boy with right eye microphthalmia, sclerocornea of both eyes, anterior segment dysgenesis, and severe global developmental delay, associated with compound heterozygous variants ([c.4046C>G, p.Ala1349Gly] ; [c.7687C>T, p.Arg2563Trp]) in the TENM3 gene. The p.Ala1349Gly variant was found in a heterozygous state in the proband's unaffected father and brother; however, the p.Arg2563Trp variant was not present in either parent, suggesting mosaicism in the mother or a de novo occurrence in the proband.; to: Associated with phenotype in OMIM, and a probable gene for Colobomatous microphthalmia in G2P. PMID: 22766609 (2012) - Two affected sibs from a consanguineous Saudi family, with nonsyndromic bilateral microphthalmia, iris and retinal coloboma, and microcornea. Normal cognitive development was noted in both sibs. A homozygous 1 bp insertion (c.2083dup, p.T695Nfs*5) in the TENM3 gene, causing a frameshift predicted to result in premature truncation of the resulting protein, segregated with the phenotype. No other pathogenic variant were identified in any of the known microphthalmia genes. PMID: 27103084 (2016) - In a patient with bilateral colobomatous microphthalmia authors identified a segregating homozygous splice site variant (c.2968‐2A>T, p.Val990Cysfs*13) in the TENM3 gene. His development was delayed, and he entered a specialised institution at the age of eight because of his apparent ID. PMID: 30513139 (2018) - In two sisters with ocular coloboma and microcornea, but without microphthalmia, WES revealed a homozygous TENM3 variant (c.1857T>A, p. Cys619*). Sanger sequencing confirmed the parents were heterozygous carriers. Patient cells were not available for functional study of the variant. The older child (5.5 years old) was said to have global developmental delay; while the younger child (4 years 3 months old) had mild motor delay and spoke only few words, but cognition was reported normal. PMID: 29753094 (2019) - 9-year-old boy with right eye microphthalmia, sclerocornea of both eyes, anterior segment dysgenesis, and severe global developmental delay, associated with compound heterozygous variants ([c.4046C>G, p.Ala1349Gly] ; [c.7687C>T, p.Arg2563Trp]) in the TENM3 gene. The p.Ala1349Gly variant was found in a heterozygous state in the proband's unaffected father and brother; however, the p.Arg2563Trp variant was not present in either parent, suggesting mosaicism in the mother or a de novo occurrence in the proband. |
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| Anophthalmia or microphthalmia v1.25 | TENM3 | Arina Puzriakova reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22766609, 27103084, 30513139, 29753094; Phenotypes: Microphthalmia, syndromic 15, 615145, ?Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.25 | OTX2 | Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.25 | C16orf62 | Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.25 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.25 | C16orf62 | Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.24 | C16orf62 |
Sarah Leigh gene: C16orf62 was added gene: C16orf62 was added to Anophthalmia or microphthalmia. 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 |
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| Anophthalmia or microphthalmia v1.23 | FAT1 |
Zornitza Stark gene: FAT1 was added gene: FAT1 was added to Anophthalmia or microphthalmia. Sources: Expert list Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 30862798; 26905694 Phenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy Review for gene: FAT1 was set to GREEN gene: FAT1 was marked as current diagnostic Added comment: 5 families reported with eye abnormalities in addition to the renal phenotype. Sources: Expert list |
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| Anophthalmia or microphthalmia v1.23 | KMT2D |
Julia Baptista changed review comment from: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature; to: One Irish male reported with a de novo KMT2D variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature |
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| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Classified gene: MYRF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Added comment: Comment on list classification: Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | MYRF | Ivone Leong Gene: myrf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.22 | MYRF | Ivone Leong Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs changed review comment from: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature; to: Entry in OMIM (600165) for locus, subsequently ascribed to variants in MYRF in this same family and at least 7 others (PMID: 31048900, 31172260, 31700225, 31266062). Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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| Anophthalmia or microphthalmia v1.21 | MYRF |
Owen Siggs gene: MYRF was added gene: MYRF was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 Phenotypes for gene: MYRF were set to Nanophthalmos; high hyperopia Penetrance for gene: MYRF were set to Complete Review for gene: MYRF was set to GREEN Added comment: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960). Sources: Literature |
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| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Classified gene: KMT2D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Added comment: Comment on list classification: Added to the panel as a Green gene. KMT2D is associated to a phenotype in both OMIM and Gene2Phenotype. There is sufficient evidence to support gene-disease phenotype for this gene and the Clinical team at Genomics England agrees that this gene is relevant for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.19 | KMT2D | Ivone Leong Phenotypes for gene: KMT2D were changed from microphthalmia to microphthalmia; Kabuki syndrome 1, 147920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.18 | KMT2D | Ivone Leong Publications for gene: KMT2D were set to PMID: 26049589; 27530281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.17 | KMT2D |
Julia Baptista gene: KMT2D was added gene: KMT2D was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to PMID: 26049589; 27530281 Phenotypes for gene: KMT2D were set to microphthalmia Penetrance for gene: KMT2D were set to Complete Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic Added comment: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature |
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| Anophthalmia or microphthalmia v1.17 | PAX2 | Ivone Leong Classified gene: PAX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.17 | PAX2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.17 | PAX2 | Ivone Leong Gene: pax2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.16 | PAX2 |
Richard Scott gene: PAX2 was added gene: PAX2 was added to Anophthalmia or microphthalmia. Sources: Expert list Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to 22213154; 10533062 Phenotypes for gene: PAX2 were set to 120330 Penetrance for gene: PAX2 were set to Incomplete Review for gene: PAX2 was set to GREEN gene: PAX2 was marked as current diagnostic Added comment: Sources: Expert list |
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| Anophthalmia or microphthalmia v1.15 | SMO | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.15 | SMO | Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TUBGCP4 | Rebecca Foulger classified TUBGCP4 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TUBGCP4 | Rebecca Foulger added TUBGCP4 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TUBGCP4 | Rebecca Foulger reviewed TUBGCP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | SMO | Louise Daugherty classified SMO as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | SMO | Louise Daugherty commented on SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | SMO | Louise Daugherty commented on SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | SMO | Louise Daugherty added SMO to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | SMO | Louise Daugherty reviewed SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TMEM98 | Louise Daugherty classified TMEM98 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TMEM98 | Louise Daugherty commented on TMEM98 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TMEM98 | Owen Siggs added TMEM98 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | TMEM98 | Owen Siggs reviewed TMEM98 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | PRSS56 | Owen Siggs reviewed PRSS56 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | HCCS | Ellen McDonagh commented on HCCS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia | B3GALTL | Louise Daugherty commented on B3GALTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||