Markup | Genome Research

Table 2.

Repeat expansion variant findings

Individual ID	Sex	Age at testing	Age at onset	FHx of CA	Gene	Disease	Inheritance	Variant motif	EH5 RE size	Straglr RE size	PCR RE size	Zygosity	Clinical presentation
P066	F	49	47	−	ATXN8/ATXN8OS	SCA8	AD	(CAG)n/(CTG)n	100	124	134	Het	CA
P110	F	81	76	−	ATXN8/ATXN8OS	SCA8	AD	(CAG)n/(CTG)n	150	768	Expanded^e	Het	CABV
P003^a	M	74	62	−	FGF14	SCA27B	AD	(GAA)n	134	288	286	Het	CABV, ANS dysfunction, and chronic cough
P004^a	F	71	55	−	FGF14	SCA27B	AD	(GAA)n	105	327^b	346	Het	CA and chronic cough
P005^a	M	76	58	−	FGF14	SCA27B	AD	(GAA)n	101	328^b	308	Het	CABV, ANS dysfunction and hyperreflexia
P013^a	M	60	47	−	FGF14	SCA27B	AD	(GAA)n	126	445^b	447	Het	CA
P014^a	M	77	70	−	FGF14	SCA27B	AD	(GAA)n	150	260	310	Het	CABV, hyperreflexia and parkinsonism
P022^a	M	69	ND	−	FGF14	SCA27B	AD	(GAA)n	114	108^b^,^c	>400	Het	CA and spasticity
P025	F	74	44	+	FGF14	SCA27B	AD	(GAA)n	118	311	315	Het	CABV and chronic cough
P026^a	F	71	69	−	FGF14	SCA27B	AD	(GAA)n	138	16^b^,^c	293	Het	CA
P038^a	M	57	46	−	FGF14	SCA27B	AD	(GAA)n	95	324^b	313	Het	CA and spasticity
P040^a	F	69	58	−	FGF14	SCA27B	AD	(GAA)n	188	126^b	>400	Het	CAUV, ANS dysfunction, and hyperreflexia
P042^a	F	80	59	−	FGF14	SCA27B	AD	(GAA)n	126	252	253	Het	CABV
P045	M	72	ND	−	FGF14	SCA27B	AD	(GAA)n	145	329	349	Het	CABV
P050^a	M	73	67	−	FGF14	SCA27B	AD	(GAA)n	130	270^b	265	Het	CABV
P052^a	F	87	77	−	FGF14	SCA27B	AD	(GAA)n	117	277^b	281	Het	CA
P063	F	76	ND	+	FGF14	SCA27B	AD	(GAA)n	119	325^b	327	Het	CA and Hashimoto's thyroiditis
P064	F	76	71	−	FGF14	SCA27B	AD	(GAA)n	182	255^b	287	Het	CA
P067	M	82	69	−	FGF14	SCA27B	AD	(GAA)n	186	265	267	Het	CABV
P068	M	76	71	−	FGF14	SCA27B	AD	(GAA)n	133	249^b	268	Het	CA
P072	M	54	51	+	FGF14	SCA27B	AD	(GAA)n	146	288	289	Het	Episodic CA
P090	M	77	70	+	FGF14	SCA27B	AD	(GAA)n	109	310	315	Het	CA
P100	F	76	65	+	FGF14	SCA27B	AD	(GAA)n	90	378	374	Het	CABV
P101	M	70	50	+	FGF14	SCA27B	AD	(GAA)n	151	316	317	Het	Episodic CA
P106	F	64	60	+	FGF14	SCA27B	AD	(GAA)n	148	316	310	Het	CA
P107	M	77	ND	+	FGF14	SCA27B	AD	(GAA)n	101	325	322	Het	CA
P095	M	32	15	−	FXN	FRDA	AR	(GAA)n	127 127	947 295	Expanded^d Expanded^d	Hom	CA and upgoing plantar reflexes
P023	M	61	56	+	NOP56	SCA36	AD	(GGCCTG)n	317	5^b	Expanded^e	Het	CA
P069	M	70	ND	−	RFC1	CANVAS	AR	(AAGGG)n	84 84	No call	Expanded^e	Hom	CANVAS
P078	M	74	ND	−	RFC1	CANVAS	AR	(AAGGG)n	61 61	872^c	Expanded^e	Hom	CANVAS
P079	F	79	ND	−	RFC1	CANVAS	AR	(AAGGG)n	44 44	794^c	Expanded^e	Hom	CANVAS
P093	M	67	63	−	RFC1	CANVAS	AR	(AAGGG)n	60 60	944^c	Expanded^e	Hom	CANVAS
P097	M	81	55	−	RFC1	CANVAS	AR	(AAGGG)n	30 48	No call	Expanded^e	Hom	CANVAS

[i] M, male; F, female; ND, no data available; FHx, family history; CA, cerebellar ataxia; −, absent; +, present; SCA, spinocerebellar ataxia; FRDA, Friedreich ataxia; CANVAS, cerebellar ataxia neuropathy and vestibular areflexia syndrome; AD, autosomal dominant; AR, autosomal recessive; EH5, ExpansionHunter5; RE, repeat expansion; Het, heterozygous; Hom, homozygous; CABV, cerebellar ataxia and bilateral vestibulopathy; ANS, autonomic nervous system; CAUV, cerebellar ataxia and unilateral vestibulopathy.

[ii] ^aPreviously reported in Rafehi et al. (2023).

[iii] ^bLess than seven supporting reads.

[iv] ^cOnly one allele size is called at this locus.

[v] ^dOn clinical diagnostic testing.

[vi] ^eRP-PCR showing an expanded allele.

[vii] Italicized sizing numbers are those not called as expanded (only applicable to Straglr).