1. Panels
  2. Fetal anomalies
  3. NIPAL4
Genes in panel
Prev Next

Fetal anomalies

Gene: NIPAL4

Green List (high evidence)
NIPAL4 (NIPA like domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000172548
EnsemblGeneIds (GRCh37): ENSG00000172548
OMIM: 609383, Gene2Phenotype
NIPAL4 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:03 p.m. | Last Modified: 1 Feb 2021, 3:03 p.m.
Panel Version: 1.455
Created: 1 Feb 2021, 3:03 p.m.
Last Modified: 1 Feb 2021, 3:03 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Created: 28 Jan 2021, 4:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 6

Created: 28 Jan 2021, 4:43 p.m.

Panel version: 1.213

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
  • Autosomal recessive congenital ichthyosis 6, MONDO:0012847
OMIM
609383
Clinvar variants
Variants in NIPAL4
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: NIPAL4.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NIPAL4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281; Autosomal recessive congenital ichthyosis 6, MONDO:0012847

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nipal4 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NIPAL4.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: NIPAL4 was added gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 Review for gene: NIPAL4 was set to GREEN