Evidence Details for GATM
Basic Information Top
| Gene Symbol: | GATM ( AGAT,AT ) |
|---|---|
| Gene Full Name: | glycine amidinotransferase (L-arginine:glycine amidinotransferase) |
| Band: | 15q21.1 |
| Quick Links | Entrez ID:2628; OMIM: 602360; Uniprot ID:GATM_HUMAN; ENSEMBL ID: ENSG00000171766; HGNC ID: 4175 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GATM|2628|nucleotide
ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATCGGATCTCGGCTTGGACGAACCTTGACAGGATGGGTGCAGCGAACT
TTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAAC
GAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAGGCCAACACATATGAAAAGTACTGGCCA
TTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTG
GGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGG
ACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAGGATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTG
ACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAGGTTACAAACTACCTAGGCATTGAATGG
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATT
GTGCTTTCCAACCCTGACCGACCATGTCACCAGATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACGATCATCCA
CTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAG
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ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATCGGATCTCGGCTTGGACGAACCTTGACAGGATGGGTGCAGCGAACT
TTCCAGAGCACCCAGGCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTGCCCAAGGACTGCCCTGTCTCTTCTTACAAC
GAATGGGACCCCTTAGAGGAAGTGATAGTGGGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAGGCCAACACATATGAAAAGTACTGGCCA
TTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTGAAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCTACGGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTG
GGCAATGAGATTATCGAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATCAAAGACTACTTCCACCGTGGCGCCAAGTGG
ACAACAGCTCCTAAGCCCACAATGGCTGATGAGCTTTATAACCAGGATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCTCAGGGAAAATTTGTG
ACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAAGCCAGGTTACAAACTACCTAGGCATTGAATGG
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAATCCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATT
GTGCTTTCCAACCCTGACCGACCATGTCACCAGATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCTCCAACACCAATCATCCCAGACGATCATCCA
CTCTGGATGTCATCCAAATGGCTTTCCATGAATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAAAAGATGTTTGAAAAG
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | AGAT deficiency (612718) |
| Description | Arginine:glycine amidinotransferase (AGAT) deficiency (brain creatine deficiency, synthesis defect) has been described in only three families with 6 affected; autistic features were reported in one |
| Reference(s) | 12468279; |
| Level | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.