Molecular Vision: Gupta, Mol Vis 2022; 28:203-219. Table 4

Table 4. Phenotypic case characterization-continued.

Subject	Gene	Inh.	Sex	Age	Phenotype, Comments
PT23	PDE6B	AR	M	12	RP, A1: de novo, not found in either parental sample
					A2: Splice site mutation, mother is unaffected carrier
PT24	PDE6B	AR	M	18	RP, Mother is unaffected carrier of A2 only
PT25	POC1B	AR	M	19	COD
PT26	POC1B	AR	F	35	COD
PT27	PROM1	AD	M	18	Stargardt-like Macular Dystrophy
PT28	PROM1	AD	F	45	Mild macular imaging and functional changes (mother of PT7), Likely incomplete penetrance or variable expressivity
PT29	PROM1	AD	F	58	CORD
PT30	PROM1	AD	M	61	CORD - brother of PT29
PT31	RDH12	AR	F	20	Early-onset RP (aka SECORD), Mother is unaffected carrier, consanguinity
PT32	RDH12	AR	F	7	RP, Mother is unaffected carrier of A1 only
PT33	RDH5	AR	M	22	Fundus albipunctatus, A1: ? abnormal splicing, mother is unaffected carrier of A1 only
PT34	RP1	AR	F	8	RP, Patient is adopted
PT35	RP1L1	AD	M	26	OMD, See case description
PT36	RP2	XL	M	7	RP, Mother is unaffected carrier
PT37	RPGR	XL	M	36	RP, No mutations by sequencing, affected male relatives carry A1
PT38	RS1	XL	M	16	XLRS
PT39	RS1	XL	M	3	XLRS, Two affected maternal uncles carry A1
PT40	SNRNP200	AD	F	62	RP, Affected brother/nephew carry A1
PT41	TRPM1	AR	M	9	CSNB1
PT42	USH2A	AR	M	53	Severe RP (no hearing loss) - Allele 1 is an in-frame deletion and a point mutation, Also has TTLL5 p.Arg479Ter, c.1435C>T and TTLL5 p.Ala164Val, c.491C>T, mom unaffected carrier of A1 but does NOT possess either TTL5 mutation
PT43	USH2A	AR	M	44	RP with sloping SNHL (USH2), No A2 mutation by sequencing
PT44	VPS13B	AR	M	22	Cohen Syndrome (RP), No mutations by sequencing, both parents carry same duplication, consanguinity

Phenotypic summary of solved novel variant cases, relevant corroborating phase determination data, and predicted splice site mutation information included (continued from Table 3). Inh.: Inheritance, RP: Retinitis Pigmentosa, COD: Cone Dystrophy, STGD: Stargardt disease, CORD: Cone-rod dystrophy, OMD: Occult macular dystrophy, XLRS:Xlinked Retinoschisis, CSNB1: Congenital Stationary Night Blindness Type 1, SNHL: sensorineural hearing loss, USH2: Usher Syndrome Type 2.