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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: J Med Genet. 2021 Jan 18;59(3):270–278. doi: 10.1136/jmedgenet-2020-107317

Table 2.

Candidate genes for which there is sufficient evidence to support a phenotypic expansion involving CDH.

Gene Disorder† Expressed in
the
developing
diaphragm?‡ 		CDH-
Pathogenicity
Score		 Number of
individuals in
our CDH+
cohort with
changes in this
gene and level
of certainty		 Other cases of
CDH reported
for this
gene/disorder
in humans?
ALG12 ALG12-congenital disorder of glycosylation, (MIM #607143) YES 48.2% 2; Definitive, Probable No/No
BRCA2 Fanconi anemia, complementation group D1 (MIM #605724) YES 88.8% 1; Definitive No/Yes [28]
EP300 Rubinstein-Taybi syndrome 2 (MIM #613684) YES 94.7% 2; Probable, Provisional No/Yes [29]
FOXP1 Mental retardation with language impairment and with or without autistic features (MIM #613670) YES 96.9% 1; Definitive Yes [7]/Yes [7]
SMARCA4 Coffin-Siris syndrome 4 (MIM #614609) YES 93.7% 1; Definitive No/Yes [30-32]
†

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.