Developmental Brain Disorder Gene Database

Missense Gene

Gene

Return to Missense Gene Listing Page

Missense

ADSL

HGNC:291 (protein-coding gene)

adenylosuccinate lyase

Unique Cases:: 10

Disorders:: ID, ASD, EP

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4- carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. {ECO:0000269|PubMed:10888601}. (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: No alias sybmols

Chromosomal Location: 22q13.1

Genomic Coordinates: GRCh37:chr22:40742504-40762752; GRCh38:chr22:40346500-40387527

Associated Disorders: Intellectual Disability, Autism, Epilepsy

Predictive Scores:

HI Score (Decipher): 4.7

pLI (gnomAD): 0.00

LOEUF (gnomAD): 1.07

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): Definitive

ClinGen Classification (ClinGen): Definitive1

GenCC Classification (GenCC): Definitive2 Strong1 Supportive1

Cases:

Publications:

Demos M et. al., Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy., Front Neurol, 2019

Stojanovic JR et. al., Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability., J Child Neurol, 2020

Palmer EE et. al., Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness., Mol Genet Genomic Med, 2018

Mao X et. al., Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines., Sci Rep, 2017

Hu H et. al., Genetics of intellectual disability in consanguineous families., Mol Psychiatry, 2019

Mastrangelo M et. al., Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis., Mol Genet Metab Rep, 2019

Kurul SH et. al., High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases., Brain, 2021

Lee HF et. al., Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders., Dev Med Child Neurol, 2021

Varesio C et. al., Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy., Diagnostics (Basel), 2021

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.