1. Panels
  2. Fetal anomalies
  3. LINC01578
Genes in panel
Prev Next

Fetal anomalies

Gene: LINC01578

Amber List (moderate evidence)
LINC01578 (long intergenic non-protein coding RNA 1578)
EnsemblGeneIds (GRCh38): ENSG00000272888
EnsemblGeneIds (GRCh37): ENSG00000272888
LINC01578 is in 2 panels

2 reviews

Natalie Chandler (North Thames GLH)

I don't know

Gene now called CHASERR. Green on ID panel UK panel app, PMID39442041 uncomplicated pregnancies, with birth weight, length, and head circumference in the normal range. Decreased head circumference 2yrs. Facial dysmorphisms were noted at birth, including widely spaced eyes, anteverted nares, low-set ears, and a long philtrum. ortical atrophy, optic nerve atrophy, and cerebral hypomyelination, with a thin corpus callosum, on T1- or T2-weighted magnetic resonance imaging (MRI) of the brain 4 years of age. Deletions non-coding. Need genome or to add in.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
new-gene-name tag added, HGNC approved symbol is CHASERR
Created: 9 Mar 2026, 5:20 p.m. | Last Modified: 9 Mar 2026, 5:20 p.m.
Panel Version: 6.146
Created: 9 Mar 2026, 5:20 p.m.
Last Modified: 9 Mar 2026, 5:20 p.m.
Panel version: 6.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012
Tags
new-gene-name
Clinvar variants
Variants in LINC01578
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 for gene: LINC01578

9 Mar 2026, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: LINC01578.

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: LINC01578 was added gene: LINC01578 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted