Glaucoma (developmental)
Gene: FOXD3
Variants reported in PMID 22815627 have population frequencies out of keeping for monogenic disorders: p.Thr16Met is present in 87 individuals in gnomad, p.Pro120Leu is present in 1, p.Asn173His is present in 24, p.Arg273_Gly276dup is present in 152. Also note some of the variants were present in unaffected parents etc.Created: 2 Aug 2020, 8:32 a.m. | Last Modified: 2 Aug 2020, 8:32 a.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis; Peters anomaly; Glaucoma
Publications
DB Kloss et al. 2012: Five families with anterior segment disorders. Reported variants are missenseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aniridia; Peters anomaly; Anterior segment dysgenesis
Publications
Mode of pathogenicity
Other - please provide details in the comments
Comment on list classification: Demoted from Green to Amber. Based on the expert reviews, this gene has been demoted from Green to Amber until new evidence is available.Created: 16 Apr 2021, 3:02 p.m. | Last Modified: 16 Apr 2021, 3:02 p.m.
Panel Version: 1.34
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Kloss et al. 2012: Five families with anterior segment disorders. Reported variants are missenseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aniridia; Peters anomaly; Anterior segment dysgenesis
Publications
Mode of pathogenicity
Other - please provide details in the comments
Only a single report, with four variants in five patients with aniridia or Peters anomaly (glaucoma status uncertain). All four variants are present in gnomAD (between 24 and 226 alleles). Also not clear that they follow a Mendelian pattern of inheritance - in three instances where parents were genotyped, the same variant was present in an unaffected parent.Created: 14 Nov 2017, 7:22 a.m.
Publications
Comment on list classification: Feedback from Arianna Tucci: please add as the phenotype includes glaucoma and also add to the corneal abnormalities, cataract and the anophthalmia/microphthalmia panels.Created: 26 Apr 2017, 8:44 a.m.
Comment on list classification: Not found in OMIM, Gene2Phenotype or Orphanet. Only one publication found with a mention of glaucoma - PMID: 22815627 which identified variants in 5 probands from 5 different pedigrees with anterior segment dysgenesis phenotypes Peters anomaly or aniridia. Unsure whether this should be included on the glaucoma panel.Created: 12 Apr 2017, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis
Variants in this GENE are reported as part of current diagnostic practice
Gene: foxd3 has been classified as Amber List (Moderate Evidence).
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for FOXD3 were set to Anterior segment dysgenesis;Peters anomaly;aniridia
Publications for FOXD3 were set to 22815627
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FOXD3 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel
FOXD3 was created by Chricampbell