1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. NIPAL4
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: NIPAL4

Green List (high evidence)
NIPAL4 (NIPA like domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000172548
EnsemblGeneIds (GRCh37): ENSG00000172548
OMIM: 609383, Gene2Phenotype
NIPAL4 is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30578701;
- 5 families all consanguineous with 3 unique variants
- 4 have erythroderma and all 5 have PPK
Sources: Literature
Created: 19 Aug 2020, 4:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)

Publications

Created: 19 Aug 2020, 4:37 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
OMIM
609383
Clinvar variants
Variants in NIPAL4
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nipal4 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nipal4 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: NIPAL4 was added gene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NIPAL4 were set to 30578701 Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 (MIM#612281) Penetrance for gene: NIPAL4 were set to unknown Review for gene: NIPAL4 was set to GREEN