Features include always present findings: Type I diabetes mellitus and Pancreatic aplasia; and common findings: Absent septum pellucidum, Sloping forehead, Hitchhiker thumb, and Focal impaired awareness seizure and others. 35 total HPO annotations.

CNOT1 encodes CCR4-NOT transcription complex subunit 1 (2,376 aa). Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Highest expression in Cells EBV-transformed lymphocytes (125.3 TPM) and Testis (76.7 TPM).

Holoprosencephaly 12 with or without pancreatic agenesis has limited evidence linking it to mutations in the CNOT1 gene on chromosome 16.

CNOT1 is classified as a druggable target (Nuclear Hormone Receptor category) with score 0.0.

Genetic testing for CNOT1 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for holoprosencephaly 12 with or without pancreatic agenesis has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 20 common features.

No clinical trials have been registered for holoprosencephaly 12 with or without pancreatic agenesis.

203 publications have been identified in PubMed for holoprosencephaly 12 with or without pancreatic agenesis. Kisho has analyzed 133 by research type. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (17%), and Case Report / Case Series (16%).