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Fetal anomalies

Gene: PJA1

Amber List (moderate evidence)

PJA1 (praja ring finger ubiquitin ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000181191
EnsemblGeneIds (GRCh37): ENSG00000181191
OMIM: 300420, Gene2Phenotype
PJA1 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

No new publications since last PanelApp review August 2020

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Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Created: 14 Feb 2022, 6:25 a.m.

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

Phenotypes
Trigonocephaly, intellectual disability

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trigonocephaly, intellectual disability
OMIM
300420
Clinvar variants
Variants in PJA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pja1 has been classified as Amber List (Moderate Evidence).

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pja1 has been classified as Amber List (Moderate Evidence).

14 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PJA1 was added gene: PJA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Trigonocephaly, intellectual disability Review for gene: PJA1 was set to AMBER