Table 2.

Genes with definitive or probable diagnoses that do not currently have sufficient evidence to support an association with EA/TEF

Gene	Disorder, MIM# number	Subject ID; variant; ACMG interpretation	Level of diagnostic certainty	EA/TEF specific pathogenicity score	Other cases EA/TEF reported for this gene/disorder in humans
NEDD4L	Periventricular nodular heterotopia 7, MIM# 617201	S13; c.814-6T>A [NM_015277.6] p.(?); Likely Pathogenic	Probable	41.9%	No/No
NSD1	Sotos syndrome 1, MIM# 117550	S32; c.5351T>C [NM_022455.5] p.(Ile1784Thr); Likely Pathogenic	Probable	85.4%	No/No
PTPN11	LEOPARD syndrome 1, MIM# 151100; Noonan syndrome 1, MIM# 163950; Metachondromatosis, MIM #156250	S15; c.922A>G [NM_002834.5] p.(N308D); Pathogenic	Definitive	71%	No/No
SLC20A2	Basal ganglia calcification, idiopathic, 1, MIM# 213600	S10; c.731-18_738del26 [NM_006749.5] p.(?); Pathogenic	Definitive	43.6%	No/No
TPO	Thyroid dyshormonogenesis 2A, MIM# 274500	S18; c.[1184_1187dupGCCG];[1472G>A] [NM_000547.6] p.[(A397Pfs*76)];[(R491H)]; Pathogenic/Pathogenic	Definitive	77.4%	No/No