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A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.

Neurogenetics - 1 Oct 2023

Ghorashi Tahereh, Darvish Hossein, Bakhtiari Somayeh, Tafakhori Abbas, Kruer Michael C, Mozdarani Hossein

Abstract excerpt

Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorder. Although many cases are caused by single gene defects, ID is highly genetically heterogeneous. Biallelic variants in the transmembrane protein TMEM147 have recently been linked to intellectual disability with dysmorphic facial features. TMEM147 is believed to localize to the endoplasmic...

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PMID: 37668766
DOI: 10.1007/s10048-023-00734-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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