The Israeli National Genetic database: a 10-year experience

Table 2 Autosomal recessive disorders reported in affected patients

	Unique entries	Number of genes	Genes with >1 pathogenic variant^a	Founder mutations^b	Founder in >1 mutation^c
JEWS	648	306	135 (44.1%)	192 (29.6%)	77 (57%)
Ashkenazi	283	161	61 (37.9%)	66 (23.3%)	44 (72.1%)
Morocco	80	48	17 (35.4%)	32 (40%)	13 (76.5%)
Iraq	50	44	11 (22.9%)	23 (46%)	8 (72.7%)
Iran	62	43	3 (7%)	23 (37.1%)	3 (100%)
Yemen	37	31	4 (13.3%)	7 (18.9%)	2 (50%)
Israeli Arabs	934	473	151 (31.9%)	175 (18.7%)	61 (40.4%)
Christian	58	38	7 (17.5%)	6 (10.3%)	3 (48.3%)
Muslim	553	335	89 (26.6%)	89 (16.1%)	33 (37.1%)
Bedouins	170	140	25 (17.9%)	86 (50.6%)	20 (80%)
Druze	75	58	12(20.7%)	19 (25.3%)	7 (58.3%)

The total numbers of entries among Jews include similar entries reported in more than one community, and entries in small communities are not included in the Table. Among Arabs, the total number of entries includes duplicated entries in which a same pathogenic variant was reported in more than one locality in patients from a same religious group and similar entries reported in more than one community
^aThe percentage in parenthesis is the number of genes with more than one pathogenic variant out of the number of genes
^bThe percentage in parenthesis is the number of founder mutations out of the number of unique entries
^cThe percentage in parenthesis is the number of genes with more than one founder mutation out of the number of genes with more than one pathogenic variant

ISSN: 1479-7364