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  2. Holoprosencephaly and septo-optic dysplasia
  3. ZRSR2
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Holoprosencephaly and septo-optic dysplasia

Gene: ZRSR2

Green List (high 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 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.
Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited
Sources: Expert Review
Created: 17 Mar 2024, 10:44 p.m.

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

Phenotypes
Orofaciodigital syndrome XXI, MIM# 301132

Publications

Created: 17 Mar 2024, 10:44 p.m.

Panel version: 1.16

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.

Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited
Sources: Literature
Created: 4 Jan 2024, 1:55 a.m.

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

Phenotypes
Orofacialdigital syndrome MONDO:0015375, ZRSR2-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jan 2024, 1:55 a.m.

Panel version: 1.9

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132
OMIM
300028
Clinvar variants
Variants in ZRSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zrsr2 has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zrsr2 has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: ZRSR2 was added gene: ZRSR2 was added to Holoprosencephaly and septo-optic dysplasia. 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 38158857 Phenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related Review for gene: ZRSR2 was set to GREEN gene: ZRSR2 was marked as current diagnostic