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Structural eye disease

Gene: ZRSR2

Amber List (moderate evidence)
ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)
EnsemblGeneIds (GRCh38): ENSG00000169249
EnsemblGeneIds (GRCh37): ENSG00000169249
OMIM: 300028, Gene2Phenotype
ZRSR2 is in 7 panels

1 review

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There are 2 male individuals reported in literature with hemizygous ZRSR2 variants and a syndromic presentation including microphthalmia and optic disc coloboma. Hence, this gene can only be rated Amber on Structural eye disease, based on the current evidence.
Created: 10 Nov 2026, 4:31 p.m. | Last Modified: 10 Nov 2026, 4:31 p.m.
Panel Version: 5.14
PMID: 38158857 Hannes et al., 2024
Report of 8 boys from 6 unrelated families with Orofaciodigital syndrome from Argentina, Belgium, France, and Spain, including the family (family 4) originally described by PMID: 11003938 (Buño et al., 2000). One individual had holoprosencephaly with no further clinical details availalble. Overlapping phenotype: postaxial polydactyly (7/7), bilateral hallux duplication (5/7), brachydactyly (2/7), clinodactyly (2/7), high narrow palate (5/7), cleft palate (2/7), incisor anomalies (3/5), holoprosencephaly (2/7), microphthalmia (2/7, one with additional finding of optic disc coloboma), micropenis (4/7), seizures (2/7), bilateral cryptorchidism (5/6). Development was normal or mildly delayed. All probands harboured hemizygous ZRSR2 variants: c.1211_1212de, p.(Gly404GlufsTer23) in family 1, and c.1207_1208del, p.(Arg403GlyfsTer24) in the other 5 families.
Functional: Primary fibroblasts containing the NM_005089.4:c.1207_1208del ZRSR2 variant had abnormally elongated cilia.

PMID: 31680349 Guo et al., 2020
Trio-WES in families with recurrent fetal malformations.
Family 28 - 5 affected male fetuses, hemizygous for a ZRSR2 variant c.1207_1208del, p.(Arg403GlyfsTer24) - maternally inherited. Abnormal prenatal findings: congenital hydrocephalus, median cleft lip and palate, abnormal heart morphology, holoprosencephaly.

ZRSR2 is associated with XLR Orofaciodigital syndrome XXI, OMIM:30113 in OMIM; the assocation is rated as Moderate in Gene2Phenotype (resources accessed 6th Nov 2026).
Sources: Literature
Created: 10 Nov 2026, 4:29 p.m. | Last Modified: 10 Nov 2026, 4:32 p.m.
Panel Version: 5.14

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Orofaciodigital syndrome XXI, OMIM:301132; orofaciodigital syndrome, MONDO:0015375; microphthalmia, MONDO:0021129

Publications

Created: 10 Nov 2026, 4:29 p.m.
Last Modified: 10 Nov 2026, 4:32 p.m.
Panel version: 5.13

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Orofaciodigital syndrome XXI, OMIM:301132
  • orofaciodigital syndrome, MONDO:0015375
  • microphthalmia, MONDO:0021129
OMIM
300028
Clinvar variants
Variants in ZRSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: zrsr2 has been classified as Amber List (Moderate Evidence).

10 Nov 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: ZRSR2 was added gene: ZRSR2 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZRSR2 were set to 11003938; 31680349; 38158857 Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132; orofaciodigital syndrome, MONDO:0015375; microphthalmia, MONDO:0021129 Review for gene: ZRSR2 was set to AMBER