1. Panels
  2. Severe Combined Immunodeficiency (absent T present B cells)
  3. PAX1
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Severe Combined Immunodeficiency (absent T present B cells)

Gene: PAX1

Green List (high evidence)
PAX1 (paired box 1)
EnsemblGeneIds (GRCh38): ENSG00000125813
EnsemblGeneIds (GRCh37): ENSG00000125813
OMIM: 167411, Gene2Phenotype
PAX1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 individuals from three unrelated families.
Sources: Literature
Created: 1 Mar 2020, 10:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome

Publications

Created: 1 Mar 2020, 10:46 p.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic SCID
  • dysmorphism
  • ear abnormalities
  • Otofaciocervical syndrome 2, MIM# 615560
OMIM
167411
Clinvar variants
Variants in PAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax1 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Syndromic SCID; dysmorphism; ear abnormalities; Otofaciocervical syndrome 2, MIM# 615560

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax1 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX1 was added gene: PAX1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 32111619 Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome Review for gene: PAX1 was set to GREEN