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Fetal anomalies

Gene: PTBP1

Amber List (moderate evidence)
PTBP1 (polypyrimidine tract binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000011304
EnsemblGeneIds (GRCh37): ENSG00000011304
OMIM: 600693, Gene2Phenotype
PTBP1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
Created: 21 Oct 2025, 10:05 a.m. | Last Modified: 21 Oct 2025, 10:18 a.m.
Panel Version: 6.105

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 21 Oct 2025, 10:05 a.m.
Last Modified: 21 Oct 2025, 10:18 a.m.
Copied from panel: Skeletal dysplasia v8.20

Ronnie Wright (North West GLH)

Green List (high evidence)

One publication (PMID: 40965981). 27 individuals from 25 families, predominantly with start loss variants (recurring de novo).

'Affected individuals presented with a syndromic neurodevelopmental disorder and variable skeletal dysplasia with disproportionate short-limbed short stature. Intellectual functioning ranged from normal to moderately delayed'
'Additional clinical features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%)'

For the start loss variants, re-initiation of translation at p.Met31 is shown to be occurring by authors, and leads to reduced nuclear localization, enhanced cytoplasmic retention and increased protein stability.

Authors showed a recognizable methylation episignature.

Cases in CVA (incl 1 North West GLH), at least some of which share syndromic phenotypic features consistent with the literature report.
Sources: NHS GMS, Literature
Created: 14 Oct 2025, 1:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 14 Oct 2025, 1:01 p.m.

Copied from panel: Skeletal dysplasia v8.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Q3_25_promote_green
OMIM
600693
Clinvar variants
Variants in PTBP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

21 Oct 2025, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_NHS_review was removed from gene: PTBP1.

21 Oct 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PTBP1 was added gene: PTBP1 was added to Fetal anomalies. Sources: Literature,Expert Review Amber,NHS GMS Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PTBP1. Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTBP1 were set to 40965981 Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder, MONDO:0700092 Penetrance for gene: PTBP1 were set to unknown