1. Panels
  2. Limb disorders
  3. ZRSR2
Genes in panel
Prev Next
STRs in panel
Prev Next

Limb disorders

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 6 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 6 unrelated male probands reported in literature with hemizygous ZRSR2 variants and a limb disorders, including postaxial polydactyly (most consistent feature), as well as clinodactyly, brachydactyly, and hallux duplication. Based on available evidence, this gene can be promoted to Green on Limb disorders.
Created: 6 Nov 2026, 2:32 p.m. | Last Modified: 6 Nov 2026, 2:32 p.m.
Panel Version: 9.14
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), 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.
Created: 6 Nov 2026, 2:09 p.m. | Last Modified: 6 Nov 2026, 2:17 p.m.
Panel Version: 9.13

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

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

Publications

Created: 6 Nov 2026, 2:05 p.m.
Last Modified: 6 Nov 2026, 2:17 p.m.
Panel version: 9.13

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
Tags
Q4_26_promote_green
OMIM
300028
Clinvar variants
Variants in ZRSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 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).

6 Nov 2026, Gel status: 1

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: zrsr2 has been classified as Red List (Low Evidence).

6 Nov 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: ZRSR2 was added gene: ZRSR2 was added to Limb disorders. Sources: Literature Q4_26_promote_green tags were added to gene: ZRSR2. 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 Review for gene: ZRSR2 was set to GREEN