SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

[icordovaG]

Preferred gene-related syndrome label SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

Synonyms

Parent term (use OLS, or your favorite ontology browser) Intellectual Disability

Definition Please write the definition in the format: Any [parent class] in which the cause of the disease is a mutation in the [gene name] gene. For example: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.

A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features. In the literature, the disease entities reported with these phenotypes have been separated into Luscan-Lumish syndrome (MIM#616831) and intellectual developmental disorder-70 (MIM#620157). Given current evidence, these entities are believed to fall on a single spectrum of disease and are both included as a part of SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth.

This isn't the standard format for gene-related conditions, let me know if you want me to submit this under the regular "new term" ticket template instead.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

1. SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
2. Intellectual Disability Disorder 70 (MIM#620157 - https://www.omim.org/entry/612778?search=setd2&highlight=setd2). There is no MONDO# for this term currently. While we do not need have to have this term listed as a child, if you would like us to add this to be consistent with OMIM, please let us know.

Your nano-attribution (ORCID) or URL for a working group If you don't have an ORCID, you can sign up for one here https://clinicalgenome.org/affiliation/40006/

@ErinRiggs

[nicolevasilevsky]

Thanks @icordovaG, we'll work on this asap, we'll aim to get it in the January release.

Intellectual Disability Disorder 70 (MIM#620157 - https://www.omim.org/entry/612778?search=setd2&highlight=setd2). There is no MONDO# for this term currently. While we do not need have to have this term listed as a child, if you would like us to add this to be consistent with OMIM, please let us know.

This is MONDO:0859333

[icordovaG]

Sounds good. Thanks!