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Ocular coloboma v1.44 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Review of mode of inheritance - two reports of coloboma in monoallelic cases from one publication but leaving inheritance as biallelic for now until a 3rd case is reported (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.).
Ocular coloboma v1.44 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma v1.43 FZD5 Ivone Leong Classified gene: FZD5 as Green List (high evidence)
Ocular coloboma v1.43 FZD5 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM.

This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green:

"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.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29

RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN...
Created: 19 Jun 2019, 3:32 p.m."

There is enough evidence for this gene to be Green.
Ocular coloboma v1.43 FZD5 Ivone Leong Gene: fzd5 has been classified as Green List (High Evidence).
Ocular coloboma v1.42 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Ocular coloboma v1.42 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
Ocular coloboma v1.41 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Ocular coloboma. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
gene: FZD5 was marked as current diagnostic
Added comment: Four unrelated families reported.
Sources: Literature
Ocular coloboma v1.41 SIX3 Sarah Leigh changed review comment from: Comment on mode of inheritance: The gene was previously listed as an imprinted gene, with maternal expression. It would appear that this is not the case, although there is variable penetrance of the Holoprosencephaly 2 157170 phenotype in at least three unrelated families (PMID 17001667;19353631;19346217).; to: Comment on mode of inheritance: SIX3 was previously listed as an imprinted gene, with maternal expression. It would appear that this is not the case, although there is variable penetrance of the Holoprosencephaly 2 157170 phenotype in at least three unrelated families (PMID 17001667;19353631;19346217).
Ocular coloboma v1.41 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 21976454; 28670735
Ocular coloboma v1.40 SIX3 Sarah Leigh Added comment: Comment on mode of inheritance: The gene was previously listed as an imprinted gene, with maternal expression. It would appear that this is not the case, although there is variable penetrance of the Holoprosencephaly 2 157170 phenotype in at least three unrelated families (PMID 17001667;19353631;19346217).
Ocular coloboma v1.40 SIX3 Sarah Leigh Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ocular coloboma v1.39 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 21976454
Ocular coloboma v1.38 TENM3 Arina Puzriakova Publications for gene: TENM3 were set to 22766609, 27103084, 24859618
Ocular coloboma v1.37 TENM3 Arina Puzriakova Classified gene: TENM3 as Green List (high evidence)
Ocular coloboma v1.37 TENM3 Arina Puzriakova Gene: tenm3 has been classified as Green List (High Evidence).
Ocular coloboma v1.36 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
Ocular coloboma v1.36 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Ocular coloboma v1.36 C16orf62 Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence)
Ocular coloboma v1.36 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).
Ocular coloboma v1.36 C16orf62 Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Ocular coloboma v1.35 C16orf62 Sarah Leigh gene: C16orf62 was added
gene: C16orf62 was added to Ocular coloboma. 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
Ocular coloboma v1.32 B3GLCT Ivone Leong Classified gene: B3GLCT as Green List (high evidence)
Ocular coloboma v1.32 B3GLCT Ivone Leong Gene: b3glct has been classified as Green List (High Evidence).
Ocular coloboma v1.31 B3GLCT Ivone Leong gene: B3GLCT was added
gene: B3GLCT was added to Ocular coloboma. Sources: Expert Review
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540
Review for gene: B3GLCT was set to GREEN
Added comment: B3GLCT is associated with a phenotype in OMIM. Coloboma occasionally seen in Peters Plus syndrome.
Sources: Expert Review
Ocular coloboma v1.30 B3GALT1 Ivone Leong Classified gene: B3GALT1 as No list
Ocular coloboma v1.30 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.
Ocular coloboma v1.30 B3GALT1 Ivone Leong Gene: b3galt1 has been removed from the panel.
Ocular coloboma v1.29 LRP2 Ivone Leong Classified gene: LRP2 as Green List (high evidence)
Ocular coloboma v1.29 LRP2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as there are now 3 unrelated cases of patients with different variants in this gene.
Ocular coloboma v1.29 LRP2 Ivone Leong Gene: lrp2 has been classified as Green List (High Evidence).
Ocular coloboma v1.28 LRP2 Ivone Leong Publications for gene: LRP2 were set to 17632512, 8266995; 18553518
Ocular coloboma v1.27 LRP2 Ivone Leong Publications for gene: LRP2 were set to 17632512, 8266995
Ocular coloboma v1.26 HMX1 Ivone Leong Classified gene: HMX1 as Green List (high evidence)
Ocular coloboma v1.26 HMX1 Ivone Leong Added comment: Comment on list classification: Prmoted from amber to green. PMID: 29140751 describes a new unrelated case with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. This makes it 3 unrelated cases of patients with variants in this gene. Therefore, promoted it to green rating.
Ocular coloboma v1.26 HMX1 Ivone Leong Gene: hmx1 has been classified as Green List (High Evidence).
Ocular coloboma v1.25 HMX1 Ivone Leong Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to 'Biallelic' as all cases are biallelic.
Ocular coloboma v1.25 HMX1 Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma v1.24 HMX1 Ivone Leong Publications for gene: HMX1 were set to 18423520; 25574057; 21417677
Ocular coloboma v1.23 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)
Ocular coloboma v1.22 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Ocular coloboma v1.22 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Ocular coloboma v1.21 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Ocular coloboma. 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
Ocular coloboma v1.20 ALDH1A3 Ellen McDonagh Publications for gene: ALDH1A3 were set to 23591992,24859618
Ocular coloboma v1.19 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.
Ocular coloboma v1.19 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
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Classified gene: SPINT2 as Red List (low evidence)
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red: 2 cases of congenital sodium diarrhea (CSD) with ocular coloboma, but second variant wasn't identified in the 2014 paper (PMID:24142340).
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Red List (Low Evidence).
Ocular coloboma v1.17 SPINT2 Rebecca Foulger gene: SPINT2 was added
gene: SPINT2 was added to Ocular coloboma. Sources: Literature
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; optic nerve coloboma; congenital sodium diarrhea with additional features
Added comment: PMID:29575628 (Hirabayashi et al 2018) present a child with congenital sodium diarrhea, bilateral cleft lip and palate, corneal erosions, optic nerve coloboma and intermittent exotropia who was found to have compound heterozygous variants in SPINT2 (c.488A>G/p.Tyr163Cys and c.166_167dupTA/p.Asn57Thrfs*24). This is second reported case of an optic nerve coloboma associated with a SPINT2 variant: Salomon et al. (2014, PMID:24142340) reported a patient with optic nerve coloboma. The patient was heterozygous for Tyr163Cys but a second SPINT2 variant was not identified.
Sources: Literature
Ocular coloboma v1.16 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Ocular coloboma. Sources: ClinGen,Expert Review Green
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 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to 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; 115470
Ocular coloboma C5orf42 Louise Daugherty commented on C5orf42
Ocular coloboma PUF60 Louise Daugherty classified PUF60 as green
Ocular coloboma PUF60 Louise Daugherty reviewed PUF60
Ocular coloboma PIGL Louise Daugherty commented on PIGL
Ocular coloboma PIGL Ellen McDonagh commented on PIGL
Ocular coloboma SMO Louise Daugherty commented on SMO
Ocular coloboma SMO Louise Daugherty classified SMO as green
Ocular coloboma SMO Louise Daugherty commented on SMO
Ocular coloboma SMO Louise Daugherty commented on SMO
Ocular coloboma Alice Gardham promoted panel to version 1
Ocular coloboma RARB Alice Gardham marked RARB as ready
Ocular coloboma RARB Alice Gardham classified RARB as green
Ocular coloboma YAP1 Alice Gardham classified YAP1 as green
Ocular coloboma MAB21L2 Alice Gardham marked MAB21L2 as ready
Ocular coloboma MAB21L2 Alice Gardham classified MAB21L2 as green
Ocular coloboma PAX2 David FitzPatrick reviewed PAX2
Ocular coloboma CHD7 David FitzPatrick reviewed CHD7
Ocular coloboma BMP4 David FitzPatrick reviewed BMP4
Ocular coloboma YAP1 Rebecca Foulger commented on YAP1
Ocular coloboma HMX1 Ellen McDonagh reviewed HMX1
Ocular coloboma YAP1 Ellen McDonagh reviewed YAP1
Ocular coloboma TCTN3 Alice Gardham classified TCTN3 as red
Ocular coloboma TMEM67 Alice Gardham classified TMEM67 as red
Ocular coloboma TMEM237 Alice Gardham classified TMEM237 as red
Ocular coloboma TMEM237 Alice Gardham commented on TMEM237
Ocular coloboma TMEM237 Alice Gardham classified TMEM237 as red
Ocular coloboma TMEM216 Alice Gardham classified TMEM216 as red
Ocular coloboma TMEM138 Alice Gardham classified TMEM138 as red
Ocular coloboma TCTN2 Alice Gardham classified TCTN2 as red
Ocular coloboma TCTN2 Alice Gardham commented on TCTN2
Ocular coloboma TCTN1 Alice Gardham classified TCTN1 as red
Ocular coloboma TCTN1 Alice Gardham commented on TCTN1
Ocular coloboma OFD1 Alice Gardham classified OFD1 as red
Ocular coloboma OFD1 Alice Gardham commented on OFD1
Ocular coloboma NPHP1 Alice Gardham commented on NPHP1
Ocular coloboma NPHP1 Alice Gardham classified NPHP1 as red
Ocular coloboma KIF7 Alice Gardham classified KIF7 as red
Ocular coloboma KIF7 Alice Gardham commented on KIF7
Ocular coloboma INPP5E Alice Gardham commented on INPP5E
Ocular coloboma INPP5E Alice Gardham classified INPP5E as red
Ocular coloboma CEP41 Alice Gardham classified CEP41 as red
Ocular coloboma CEP41 Alice Gardham commented on CEP41
Ocular coloboma CEP290 Alice Gardham classified CEP290 as red
Ocular coloboma CEP290 Alice Gardham commented on CEP290
Ocular coloboma C5orf42 Alice Gardham classified C5orf42 as red
Ocular coloboma C5orf42 Alice Gardham commented on C5orf42
Ocular coloboma ARL13B Alice Gardham classified ARL13B as red
Ocular coloboma ARL13B Alice Gardham commented on ARL13B
Ocular coloboma AHI1 Alice Gardham classified AHI1 as red
Ocular coloboma AHI1 Alice Gardham commented on AHI1
Ocular coloboma MIR204 Ellen McDonagh commented on MIR204
Ocular coloboma MAB21L2 David FitzPatrick reviewed MAB21L2
Ocular coloboma YAP1 David FitzPatrick reviewed YAP1
Ocular coloboma TMEM237 Alice Gardham marked TMEM237 as ready
Ocular coloboma TMEM231 Alice Gardham marked TMEM231 as ready
Ocular coloboma TMEM231 Alice Gardham commented on TMEM231
Ocular coloboma TMEM216 Alice Gardham marked TMEM216 as ready
Ocular coloboma TMEM216 Alice Gardham commented on TMEM216
Ocular coloboma TMEM138 Alice Gardham marked TMEM138 as ready
Ocular coloboma TMEM138 Alice Gardham commented on TMEM138
Ocular coloboma TCTN3 Alice Gardham classified TCTN3 as amber
Ocular coloboma TCTN3 Alice Gardham commented on TCTN3
Ocular coloboma TCTN2 Alice Gardham marked TCTN2 as ready
Ocular coloboma TCTN1 Alice Gardham marked TCTN1 as ready
Ocular coloboma OFD1 Alice Gardham marked OFD1 as ready
Ocular coloboma KIF7 Alice Gardham marked KIF7 as ready
Ocular coloboma NPHP1 Alice Gardham marked NPHP1 as ready
Ocular coloboma INPP5E Alice Gardham marked INPP5E as ready
Ocular coloboma CEP41 Alice Gardham marked CEP41 as ready
Ocular coloboma CEP290 Alice Gardham marked CEP290 as ready
Ocular coloboma C5orf42 Alice Gardham marked C5orf42 as ready
Ocular coloboma ARL13B Alice Gardham marked ARL13B as ready
Ocular coloboma AHI1 Alice Gardham marked AHI1 as ready
Ocular coloboma RPGRIP1L Alice Gardham marked RPGRIP1L as ready
Ocular coloboma RPGRIP1L Alice Gardham added RPGRIP1L to panel
Ocular coloboma RPGRIP1L Alice Gardham reviewed RPGRIP1L
Ocular coloboma TMEM67 Alice Gardham marked TMEM67 as ready
Ocular coloboma TMEM67 Alice Gardham added TMEM67 to panel
Ocular coloboma TMEM67 Alice Gardham reviewed TMEM67
Ocular coloboma CC2D2A Alice Gardham marked CC2D2A as ready
Ocular coloboma CC2D2A Alice Gardham added CC2D2A to panel
Ocular coloboma CC2D2A Alice Gardham reviewed CC2D2A
Ocular coloboma SMO Alice Gardham marked SMO as ready
Ocular coloboma SMO Alice Gardham added SMO to panel
Ocular coloboma SMO Alice Gardham reviewed SMO
Ocular coloboma HMX1 Alice Gardham added HMX1 to panel
Ocular coloboma HMX1 Alice Gardham reviewed HMX1
Ocular coloboma MAF Alice Gardham added MAF to panel
Ocular coloboma MAF Alice Gardham reviewed MAF
Ocular coloboma NAA10 Alice Gardham added NAA10 to panel
Ocular coloboma NAA10 Alice Gardham reviewed NAA10
Ocular coloboma HMGB3 Alice Gardham added HMGB3 to panel
Ocular coloboma HMGB3 Alice Gardham reviewed HMGB3
Ocular coloboma LRP2 Alice Gardham added LRP2 to panel
Ocular coloboma LRP2 Alice Gardham reviewed LRP2
Ocular coloboma CLDN19 Alice Gardham added CLDN19 to panel
Ocular coloboma CLDN19 Alice Gardham reviewed CLDN19
Ocular coloboma SALL4 Alice Gardham added SALL4 to panel
Ocular coloboma SALL4 Alice Gardham reviewed SALL4
Ocular coloboma TFAP2A Alice Gardham added TFAP2A to panel
Ocular coloboma TFAP2A Alice Gardham reviewed TFAP2A
Ocular coloboma SIX6 Alice Gardham added SIX6 to panel
Ocular coloboma SIX6 Alice Gardham reviewed SIX6
Ocular coloboma B3GALT1 Alice Gardham added B3GALT1 to panel
Ocular coloboma B3GALT1 Alice Gardham reviewed B3GALT1
Ocular coloboma MIR204 Alice Gardham added MIR204 to panel
Ocular coloboma MIR204 Alice Gardham reviewed MIR204
Ocular coloboma RBP4 Alice Gardham added RBP4 to panel
Ocular coloboma RBP4 Alice Gardham reviewed RBP4
Ocular coloboma PIGL Alice Gardham reviewed PIGL
Ocular coloboma IGBP1 Alice Gardham reviewed IGBP1
Ocular coloboma MAB21L2 Alice Gardham added MAB21L2 to panel
Ocular coloboma MAB21L2 Alice Gardham reviewed MAB21L2
Ocular coloboma YAP1 Alice Gardham reviewed YAP1
Ocular coloboma SALL2 Alice Gardham added SALL2 to panel
Ocular coloboma SALL2 Alice Gardham reviewed SALL2
Ocular coloboma TENM3 Alice Gardham added TENM3 to panel
Ocular coloboma TENM3 Alice Gardham reviewed TENM3
Ocular coloboma C12orf57 Alice Gardham classified C12orf57 as green
Ocular coloboma C12orf57 Alice Gardham added C12orf57 to panel
Ocular coloboma C12orf57 Alice Gardham reviewed C12orf57
Ocular coloboma ABCB6 Alice Gardham reviewed ABCB6
Ocular coloboma GDF6 Alice Gardham commented on GDF6
Ocular coloboma GDF6 Alice Gardham reviewed GDF6
Ocular coloboma GDF3 Alice Gardham reviewed GDF3
Ocular coloboma BMP7 Alice Gardham added BMP7 to panel
Ocular coloboma BMP7 Alice Gardham reviewed BMP7
Ocular coloboma BMP4 Alice Gardham marked BMP4 as ready
Ocular coloboma BMP4 Alice Gardham added BMP4 to panel
Ocular coloboma BMP4 Alice Gardham reviewed BMP4
Ocular coloboma FOXE3 Alice Gardham classified FOXE3 as green
Ocular coloboma FOXE3 Alice Gardham marked FOXE3 as ready
Ocular coloboma FOXE3 Alice Gardham added FOXE3 to panel
Ocular coloboma FOXE3 Alice Gardham reviewed FOXE3
Ocular coloboma VSX2 Alice Gardham marked VSX2 as ready
Ocular coloboma VSX2 Alice Gardham reviewed VSX2
Ocular coloboma PORCN Alice Gardham marked PORCN as ready
Ocular coloboma PORCN Alice Gardham classified PORCN as green
Ocular coloboma PORCN Alice Gardham added PORCN to panel
Ocular coloboma PORCN Alice Gardham reviewed PORCN
Ocular coloboma HCCS Alice Gardham marked HCCS as ready
Ocular coloboma HCCS Alice Gardham classified HCCS as green
Ocular coloboma HCCS Alice Gardham added HCCS to panel
Ocular coloboma HCCS Alice Gardham reviewed HCCS
Ocular coloboma ACTB Alice Gardham marked ACTB as ready
Ocular coloboma ACTB Alice Gardham classified ACTB as green
Ocular coloboma ACTB Alice Gardham added ACTB to panel
Ocular coloboma ACTB Alice Gardham reviewed ACTB
Ocular coloboma ACTG1 Alice Gardham marked ACTG1 as ready
Ocular coloboma ACTG1 Alice Gardham classified ACTG1 as green
Ocular coloboma ACTG1 Alice Gardham added ACTG1 to panel
Ocular coloboma ACTG1 Alice Gardham reviewed ACTG1
Ocular coloboma CHD7 Alice Gardham marked CHD7 as ready
Ocular coloboma CHD7 Alice Gardham classified CHD7 as green
Ocular coloboma PAX2 Alice Gardham marked PAX2 as ready
Ocular coloboma PAX2 Alice Gardham classified PAX2 as green
Ocular coloboma PAX2 Alice Gardham added PAX2 to panel
Ocular coloboma PAX2 Alice Gardham reviewed PAX2
Ocular coloboma SIX3 Alice Gardham added SIX3 to panel
Ocular coloboma SIX3 Alice Gardham reviewed SIX3
Ocular coloboma SHH Alice Gardham reviewed SHH
Ocular coloboma RARB Alice Gardham added RARB to panel
Ocular coloboma RARB Alice Gardham reviewed RARB
Ocular coloboma ALDH1A3 Alice Gardham marked ALDH1A3 as ready
Ocular coloboma ALDH1A3 Alice Gardham classified ALDH1A3 as green
Ocular coloboma ALDH1A3 Alice Gardham added ALDH1A3 to panel
Ocular coloboma ALDH1A3 Alice Gardham reviewed ALDH1A3
Ocular coloboma STRA6 Alice Gardham marked STRA6 as ready
Ocular coloboma STRA6 Alice Gardham reviewed STRA6
Ocular coloboma OTX2-AS1 Alice Gardham marked OTX2-AS1 as ready
Ocular coloboma OTX2-AS1 Alice Gardham classified OTX2-AS1 as green
Ocular coloboma OTX2-AS1 Alice Gardham added OTX2-AS1 to panel
Ocular coloboma OTX2-AS1 Alice Gardham reviewed OTX2-AS1
Ocular coloboma SOX2 Alice Gardham marked SOX2 as ready
Ocular coloboma SOX2 Alice Gardham added SOX2 to panel
Ocular coloboma SOX2 Alice Gardham reviewed SOX2
Ocular coloboma PAX6 Alice Gardham marked PAX6 as ready
Ocular coloboma PAX6 Alice Gardham classified PAX6 as green
Ocular coloboma PAX6 Alice Gardham reviewed PAX6
Ocular coloboma PUF60 Richard Scott added PUF60 to panel
Ocular coloboma PUF60 Richard Scott reviewed PUF60