1. Panels
  2. Holoprosencephaly and septo-optic dysplasia
  3. PRDM15
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Holoprosencephaly and septo-optic dysplasia

Gene: PRDM15

Amber List (moderate evidence)
PRDM15 (PR/SET domain 15)
EnsemblGeneIds (GRCh38): ENSG00000141956
EnsemblGeneIds (GRCh37): ENSG00000141956
OMIM: 617692, Gene2Phenotype
PRDM15 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.

Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Created: 24 Apr 2021, 9:12 a.m. | Last Modified: 24 Apr 2021, 9:13 a.m.
Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies

Publications

Created: 24 Apr 2021, 9:12 a.m.
Last Modified: 24 Apr 2021, 9:13 a.m.
Panel version: 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Holoprosenephaly
  • Steroid resistant nephrotic syndrome
  • Multiple congenital anomalies
OMIM
617692
Clinvar variants
Variants in PRDM15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm15 has been classified as Amber List (Moderate Evidence).

24 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm15 has been classified as Amber List (Moderate Evidence).

24 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRDM15 was added gene: PRDM15 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 31950080 Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies Review for gene: PRDM15 was set to AMBER