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Fetal anomalies

Gene: PPP1R21

Green List (high evidence)
PPP1R21 (protein phosphatase 1 regulatory subunit 21)
EnsemblGeneIds (GRCh38): ENSG00000162869
EnsemblGeneIds (GRCh37): ENSG00000162869
PPP1R21 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
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
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R27, R29. Homozygous LoF variants lead to AR Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA). Characterised bysevere GDD with severe ID, hypotonia and muscle weakness, seizures, and characteristic coarse facial features. Additional features include feeding difficulties, growth failure, narrow thorax, respiratory infections and distress, scoliosis, CHD (ASD, PS), poor visual function, ataxia, dysarthria, and rotary nystagmus. Brain anomalies include cerebral volume loss, enlarged ventricles, decreased white matter volume, white matter changes, PVL, thin corpus callosum, simplified gyral pattern, optic atrophy, and brainstem & cerebellar vermian hypoplasia. Prenatal USS findings included hyperechogenic bowel, hand, and skull anomalies (PMID: 30520571)
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383
Clinvar variants
Variants in PPP1R21
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: PPP1R21.

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: PPP1R21.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 for gene: PPP1R21

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PPP1R21 was added gene: PPP1R21 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal