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Fetal anomalies

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

Chirag Patel (Genetic Health Queensland)

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: Expert list
Created: 24 Feb 2022, 5:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
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 Feb 2022, 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 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PRDM15 was added gene: PRDM15 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to PMID: 31950080 Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies Review for gene: PRDM15 was set to AMBER