Family | Phenotype | Inheritance:Before/After testing | Gene | Refseq ID | Nucleotide change | Predicted amino acid change | Heterozygosity | Segregation | Pathogenicity | In silico Prediction | Note (other reported phenotype or references) | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FATHMM | SIFT | Mutation Taster | LRT | |||||||||||
1 | Bi, Sub, Junvenile | Sporadic/AR | CYP27A1 | NM_000784.3 | c.1263 + 1G > A | – | Hom | Father heterozygous | P | / | / | D | / | Cerebrotendinous xanthomatosis [23] |
2 | Bi,All | Sporadic/new AD | CRYBB2 | NM_000496.2 | c.487C > T | p.Gln163*|p.Q163* | Het | De novo; not found in parents | P | / | / | D | D | Novel |
3 | Bi,All | Sporadic/AD? | OPA3 | NM_001017989.2 | c.123C > G | p.Ile41Met|p.I41M | Het | Present in unaffected mother Present in unaffected mother | P | D | D | D | T | Optic atrophy [24] |
JAG1 | NM_000214.2 | c.1511A > G | p.Asn504Ser|p.N504S | Het | P | B | B | D | D | |||||
4 | Mo,Sub + Post, | Sporadic/AD or AR? | BEST1|BEST1 | NM_001139443.1|NM_004183.3 | c.20G > A | p.Ser7Asn|p.S7N | Het | Present in unaffected mother | P | D | B | D | T | |
5 | Mo, All, PHPV | Sporadic/AD or AR? | BEST1 | NM_001139443.1|NM_004183.3 | c.584C > T | p.Ala195Val|p.A195V | Het | Present in unaffected father | P | D | D | D | D | |
6 | Bi,Nuc | Sporadic/X-linked? | NHS | NM_001291867.1 | c.2774_2775dup | p.Gln926Leufs*3 | Hemi/Het | Present in unaffected mother | LP | / | / | / | / | Novel |
7 | Bi,OD-Dot,OS-Ant+Dot | Sporadic/X-linked? | NHS | NM_001291867.1 | c.2933 T > C | p.Ile978Thr|p.I978T | Het/Hemi | Present in unaffected father | VUS | B | B | D | D | Novel |
8 | Mo,Sub, Junvenile | Sporadic/AR? | WFS1 | NM_006005.3 | c.2603G > A | p.Arg868His | Het | Present in unaffected father | LP | D | D | D | D | |
9 | Mo,Nuc | Sporadic/XR | COL4A5 | NM_033380.2 | c.4003C > T | p.Pro1335Ser|p.P1335S | Hemi/Het | Yes/Present in son and unaffected mother | VUS | D | D | D | D | Alport Syndrome [34] |
10 | Bi,Cort+Sub,FEVR, Cleft Lip and Palate | Sporadic/AD? | TSPAN12 | NM_012338.3 | c.194C > T | p.Pro65Leu|p.P65L | Het | Present in unaffected father | VUS | B | B | D | D | Novel, gene associated with FEVR [35] |