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Intellectual disability

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).

DD was noted in 78%, behavioural problems in 30%, and ID in 26%, generally mild to moderate. Although ID is only seen in a subset of cases, inclusion on this panel would be beneficial in cases where other features such as skeletal abnormalities are less prominent or non existent. Inclusion on this panel would also ensure inclusion on the Hypotonic infant super panel which is plausibly relevant to younger patients with this condition.
Created: 21 Oct 2025, 10:05 a.m. | Last Modified: 21 Oct 2025, 10:25 a.m.
Panel Version: 9.139

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, 10:25 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 Intellectual disability. 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