Table 1.

Genotypes and phenotypes of various members in the family

Individual	GFI1	Blood	MYO6	Hearing
III-1	N382S (het)	Neutropenia, monocytosis	I1176L (het)	Impaired
III-3	WT	Normal	WT	Normal
IV-1	N382S (het)	Neutropenia, monocytosis	I1176L (het)	Impaired
IV-2	N382S (het)	Neutropenia, monocytosis	I1176L (het)	Impaired
IV-3	N382S (het)	Neutropenia	I1176L (het)	Impaired
V-1	N382S (het)	Neutropenia, monocytosis	WT	Normal
V-2	WT	Normal	I1176L (het)	Very slight hearing loss
V-5	N382S (het)	Has had low white cell counta	WT	Slight hearing loss
I-1	Unknown	Unknown	Unknown	Impaired
I-2	Unknown	Unknown	Unknown	Impaired in later years
II-1	Unknown	Neutropenia, monocytosis	Unknown	Impaired
III-2	Unknown	Neutropenia, monocytosis	Unknown	Impaired
IV-4	Unknown	Neutropenia	Unknown	Impaired
IV-5	Unknown	Normal	Unknown	Normal
IV-6	Unknown	Unknown	Unknown	Impaired
IV-7	Unknown	Normal	Unknown	Normal
V-3	Unknown	Normal	Unknown	Normal
V-4	Unknown	Normal	Unknown	Normal
V-6	Unknown	Has had low white cell counta	Unknown	Normal
V-7	Unknown	Unknown	Unknown	Slight hearing loss
V-8	Unknown	Unknown	Unknown	Normal

Abbreviations: WT Wildtype, het Heterozygous

^areported in patient questionnaires/interview – no accompanying blood reports available