Table 1. Genes and Loci Implicated in Mendelian Cataracts.

1: Lens Crystallins, 2: Transcription and Developmental Factors, 3: Gap Junction Proteins (Connexins), 4: Membranes, Channels and Transporters, 5: Beaded Filament, Intermediate Filaments and Cytoskeleton, 6: Chaperones and Protein Degradation, 7: Mitochondria and Metabolic 8: Other, 9: Unknown locus. Only genes implicated in isolated cataracts are listed. A more complete compilation including individual mutations can be found in Cat-Map: https://cat-map.wustl.edu/.

	Locus	Gene	INH	MIM no.	Gene/Locus MIM no.	Associated extralenticular phenotypes	Class	Reference
1	1pter-p36.13	RP1–140A9.1	AD	115665	NA	Volkman	8	(Eiberg et al., 1995)
2	1p36.32	PANK4	AD	NA	606162		7	(Sun et al., 2019)
3	1p36.13	EPHA2	AD/AR	116600	176946	Susceptibility to age-related cortical cataract,	2	(Shiels et al., 2008)
4	1p32	FOXE3	AR	612968	601094	With or without microcornea, microphthalmia, aphakia, coloboma	2	(Semina et al., 2001)
5	1q21.1	GJA8	AD/AR	116200	600897	With or without microcornea	3	(Shiels et al., 1998)
6	1q12–24	MYOC	Sporadic		601652		5	(Li et al., 2016)
7	1q25–31	?	AD				9	(Wang et al., 2007b)
8	1q41	IARS2	AR	616007	612801	skeletal dysplasia, GH deficiency, sensory neuropathy in some	7	(Li et al., 2018)
9	2pter-p24	CTRCT29	AD	115800	NA		9	(Gao et al., 2005)
10	2p12	CTRCT27	AD	607304	NA		9	(Khaliq et al., 2002)
11	2q33.3	CRYGD	AD	115700	123690	With or without microcornea	1	(Heon et al., 1999)
12	2q33.3	CRYGC	AD	604307	123680	With or without microcornea	1	(Heon et al., 1999)
13	2q33.3	CRYGB	AD	615188	123670		1	(AlFadhli et al., 2012)
14	2q33.3	CRYGA	AD		123660		1	(Li et al., 2016)
15	2q34	CRYBA2	AD	115900	600836		1	(Reis et al., 2013)
16	3p21.31	FYCO1	AR	610019	607182		6	(Chen et al., 2011)
17	3q22.1	BFSP2	AD	611597	603212	Myopia	5	(Jakobs et al., 2000)
18	3q27.3	CRYGS	AD	116100	123730		1	(Zhai et al., 2017)
19	3q28	P3H2	AR	614292	610341	Myopia, ectopis lentis, vitreoretinal degeneration	5	V7(Khan et al., 2015b)
20	4p16.1	WFS1	AD	116400	606201	Wolfram syndrome (DIDMOAD)	4	(Berry et al., 2013)
21	5q22	WDR36	Sporadic	609887	609669	POAG	2	(Li et al., 2016)
22	6p24	GCNT2	AR	110800	600429	Adult i blood group phenotype	4	(Yu et al., 2001)
23	6p12-q12	CTRCT28	?	609026	NA	Age-related cortical cataract, susceptibility to	9	(Iyengar et al., 2004)
24	6p21.31	LEMD2	AR	212500	616312		4	(Boone et al., 2016)
25	7q21-q31	?	AR				9	(Kaul et al., 2010b)
26	7q21/2	CYP51A1	AR		601637	hepatic failure, developmental delay	4	(Aldahmesh et al., 2012)
27	7q34	AGK	AR	614691	610345	Senger’s syndrome	4	(Aldahmesh et al., 2012)
28	8q13.3	EYA1	AD	602588	601653	Branchio-oto-renal syndrome, ASD	2	(Azuma et al., 2000)
29	9p22.1	RRAGA	AD		612194		6	(Chen et al., 2016)
30	9q13-q22	CTPL1	AR	605749	NA		9	(Heon et al., 2001)
31	9q21.12-q21.13	TRPM3			608961	POAG	4	(Bennett et al., 2014)
32	9q22.33	TDRD7	AR	613887	611258		2	(Lachke et al., 2011)
33	10p15.1	AKR1E2	AR		617451		7	(Aldahmesh et al., 2012)
34	10p13	VIM	AD	116300	193060		5	(Muller et al., 2009)
35	10p23.31	RNLS	AR		609360		7	(Aldahmesh et al., 2012)
36	10q23.13	SLC16A12	AD	612018	611910		4	(Kloeckener-Gruissem et al., 2008)
37	10q24.2	DNMBP	AR	618415	611282		5	(Ansar et al., 2018)
38	10q24.32	PITX3	AD	610623	602669	Anterior segment mesenchymal dysgenesis, microphthalmia, neurodevelopmental abnormalities	2	(Semina et al., 1998)
39	11q22.3	CRYAB	AD/AR	613763	123590	Myopathy, multiple types	1	(Vicart et al., 1998)
40	12q13.3	MIP	AD	615274	154050		4	(Berry et al., 2000)
41	12q24.2-q24.3	CTRCT37	AD	614422	NA		9	(Berry et al., 2011)
42	13q12.1	GJA3	AD	601885	121015		3	(Mackay et al., 1999)
43	13q34	COL4A1	AD		120130		5	(Xia et al., 2014)
44	14q11.2	SLC7A8	AR		604235		4	(Knopfel et al., 2019)
45	14q22-q23	CTRCT32	AD	11565000	NA		9	(Pras et al., 2006)
46	15q21-q22	CTRCT25	AD	605728	NA		9	(Vanita et al., 2000)
47	16q21	HSF4	AD/AR	116800	602438		2	(Bu et al., 2002)
48	16q22-q23	MAF	AD	610202	177075	With or without microcornea	2	(Jamieson et al., 2002)
49	17p13.3	TSR1			611214		8	(Yu et al., 2020)
50	17p13	CTAA2	AD	601202	NA		9	(Berry et al., 1996)
51	17q11.2	CRYBA1	AD	600881	123610		1	(Kannabiran et al., 1998)
52	17q12	UNC45B	AD	616279	611220		6	(Hansen et al., 2014)
53	17q24	CCA1	AD	115660	NA		9	(Armitage et al., 1995)
54	19p13.2	LONP1	AR		605490	Also CODAS syndrome	7	(Khan et al., 2015a)
55	19q13	CTRCT35	AR	609376	NA		9	(Riazuddin et al., 2005b)
56	19q13	ADPCZNC	AD				9	(Li et al., 2006b)
57	19q13.13	WDR87	AR				?	(Khan et al., 2015a)
58	19q13.1–13.2	SIPA1L3	AR	616851	616655		2	(Greenlees et al., 2015)
59	19q13.41	LIM2	AR	615277	154045		4	(Pras et al., 2002)
60	19q13-qter	?	AD				9	(Zhao et al., 2011)
61	20p13	ADPCZNC	AD				9	(Li et al., 2006a)
62	20p12.1	BFSP1	AR	611391	603307		5	(Ramachandran et al., 2007)
63	20q11.21	CHMP4B	AD	605387	610897		6	(Shiels et al., 2007)
64	20q11	NCOA6	AD		605299		2	(Kandaswamy et al., 2020)
65	21q22.3	CRYAA	AD/AR	604219	123580	With or without microcornea, susceptibility to age-related nuclear cataract	1	(Litt et al., 1998)
66	21q22.3	LSS	AR	616509	600909		4	(Zhao et al., 2015)
67	22q11.23	CRYBB3	AD/AR	609741	123630		1	(Riazuddin et al., 2005a)
68	22q11.23	CRYBB2	AD	601547	123620	With or without microcornea	1	(Litt et al., 1997)
69	22q12.1	CRYBB1	AD/AR	611544	6009291		1	(Mackay et al., 2002)
70	22q12.1	CRYBA4	AD	610425	123631		1	(Billingsley et al., 2006)
71	Xp22.13	NHS	X-linked	302200	300457	Nance-Horan (cataract dental) syndrome	2	(Burdon et al., 2003)