Table 2.
Detailed listing of all Limited and Disputed curations as of September 2021
| Gene | Disease Name | MONDO ID | Mode of Inheritance | Classification | SOP Version |
Date Last Evaluated |
Number of Panels in GTR (2019) | Genetic Evidence Points |
Experimental Evidence Points | Total Points |
|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||
| CACNG2 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Limited | 8 | 7/29/2021 | 4 | 1.5 | 0 | 1.5 |
| NTNG1 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Limited | 8 | 2/2/2021 | 6 | 0.1 | 2.5 | 2.6 |
| LAS1L | X-linked syndromic intellectual disability | 0020119 | X-linked | Limited | 8 | 9/21/2021 | 4 | 1.7 | 0 | 1.7 |
| CDH15 | Intellectual disability | 0001071 | Autosomal dominant | Disputed | 8 | 2/17/2021 | 5 | 0 | 0 | 0 |
| CNTNAP2 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 8 | 3/16/2021 | 19 | 0 | 0 | 0 |
| DPP6 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 8 | 5/5/2021 | 5 | 0 | 0 | 0 |
| EN2 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 8 | 2/16/2021 | 5 | 0 | 0 | 0 |
| KATNAL2 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 7 | 5/20/2020 | 7 | 0 | 0 | 0 |
| LAMC3 | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 7 | 9/1/2020 | 6 | 0 | 0 | 0 |
| MET | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 8 | 1/19/2021 | 4 | 0 | 0 | 0 |
| RELN | Complex neurodevelopmental disorder | 0100038 | Autosomal dominant | Disputed | 8 | 3/17/2021 | 11 | 0 | 0 | 0 |
| SLC6A4 | Autism spectrum disorder | 0005258 | Autosomal dominant | Disputed | 8 | 1/6/2021 | 7 | 0 | 0 | 0 |
| SLC9A9 | Autism spectrum disorder | 0005258 | Autosomal dominant | Disputed | 8 | 10/8/2020 | 8 | 0 | 0 | 0 |
| AGTR2 | X-linked complex neurodevelopmental disorder | 0100148 | X-linked | Disputed | 7 | 6/2/2020 | 7 | 0 | 0 | 0 |
| ARHGEF6 | Nonsyndromic X-linked intellectual disability | 0019181 | X-linked | Disputed | 8 | 10/20/2020 | 8 | 0 | 0 | 0 |
| CLIC2 | X-linked complex neurodevelopmental disorder | 0100148 | X-linked | Disputed | 8 | 2/16/2021 | 5 | 0 | 0 | 0 |
| IGBP1 | Corpus callosum agenesis, intellectual disability, coloboma, micrognathia syndrome | 0010333 | X-linked | Disputed | 8 | 2/2/2021 | 6 | 0 | 0 | 0 |
| SHROOM4 | X-linked complex neurodevelopmental disorder | 0100148 | X-linked | Disputed | 8 | 1/13/2021 | 9 | 0 | 0 | 0 |
| ZDHHC15 | Complex neurodevelopmental disorder | 0100038 | X-linked | Disputed | 8 | 7/30/2020 | 3 | 0 | 0 | 0 |
| ZNF41 | Nonsyndromic X-linked intellectual disability | 0019181 | X-linked | Disputed | 7 | 3/16/2021 | 6 | 0 | 0 | 0 |
| ZNF674 | X-linked intellectual disability | 0100284 | X-linked | Disputed | 8 | 5/4/2021 | 5 | 0 | 0 | 0 |
| ZNF81 | X-linked intellectual disability | 0019181 | X-linked | Disputed | 8 | 1/26/2021 | 5 | 0 | 0 | 0 |
Note that some genes that were determined not to be involved in autosomal dominant disorders, such as CNTNAP2, RELN, and LAMC3, are involved in recessive disorders associated with ID/ASD. ASD, autism spectrum disorder; GTR, Genetic Testing Registry, ID, intellectual disability; MONDO ID, Monarch Disease Ontology Identifier; SOP, standard operating procedures.