Table 3.
Candidate genes for which there is currently insufficient evidence to support a phenotypic expansion involving CDH.
| Gene | Disorder† | Level of diagnostic certainty |
Expressed in the developing diaphragm?‡ |
CDH- Pathogenicity Score |
Other cases of CDH reported for this gene/disorder in humans? |
|---|---|---|---|---|---|
| ADAT3* [20] | Mental retardation, autosomal recessive 36 (OMIM #615286) | Definitive | N/D | 48.5% | No/No |
| ANKRD11 | KBG syndrome (OMIM #148050) | Definitive | YES | 99.0% | No/No |
| DDX3X | Mental retardation, X-linked 102 (OMIM #300958) | Provisional | YES | 28.2% | No/No |
| DKC1 | Dyskeratosis congenita, X-linked (OMIM #305000) | Provisional | YES | 51.3% | No/No |
| FANCI | Fanconi anemia, complementation group I (OMIM #609053) | Provisional | YES | 25.0% | No/Yes [28] |
| FOXC2 | Lymphedema-distichiasis syndrome (OMIM #153400) | Definitive | YES | 83.3% | No/No |
| IDS | Mucopolysaccharidosis II (OMIM #309900) | Provisional | YES | 79.0% | No/No |
| LMX1B | Nail-patella syndrome (OMIM #161200) | Provisional | YES | 98.6% | No/No |
| MCPH1 | Microcephaly 1, primary, autosomal recessive (OMIM #251200) | Definitive | YES | 79.7% | No/No |
| MED12 | MED12-related disorder (OMIM #300895, #305450, #309520) | Provisional | YES | 81.7% | No/No |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency (OMIM #312170) | Definitive | YES | 73.2% | No/No |
| RASA1 | Capillary malformation-arteriovenous malformation 1 (OMIM #608354) | Definitive (Partial) | YES | 91.35 | No/No |
| SMARCC2 | Coffin-Siris syndrome 8 (OMIM #618362) | Provisional | YES | 89.9% | No/Yes [30-32] |
| SOS1 | Noonan syndrome 4 (OMIM #610733) | Provisional | YES | 74.3% | No/Yes [7 33 34] |
| TCF12 | Craniosynostosis 3 (OMIM #615314) | Probable | YES | 84.9% | No/No |
| TRAF7 | Cardiac, facial, and digital anomalies with developmental delay (OMIM #618164) | Probable | YES | 71.2% | No/No |
| TRPS1*[21] | Trichorhinophalangeal syndrome, type I (OMIM #190350) | Definitive | YES | 84.6% | No/No |
†
Disorder associated with the gene of interest that most closely fits the phenotype descriptions of the individuals in which CDH+ was identified.
‡
Is the mouse orthologue expressed in the developing diaphragm at embryonic day (E)11.5, E12.5 and E16.5 based on whole-transcriptome expression profiles published by Russell et al [27].
*
Subject was previously published. N/D = Not done or not reported.