| - GRCh37:
- Chr1:235611673-235611674
- GRCh38:
- Chr1:235448358-235448359
| B3GALNT2, TBCE | S366fs, S479fs, S530fs | Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235599771
- GRCh38:
- Chr1:235436456
| TBCE | | not provided, Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive Kenny-Caffey syndrome,
Hypoparathyroidism-retardation-dysmorphism syndrome | Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:235594040
- GRCh38:
- Chr1:235430725
| TBCE | P81L, P194L | Inborn genetic diseases, Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive Kenny-Caffey syndrome,
Hypoparathyroidism-retardation-dysmorphism syndrome, not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:235605191-235605193
- GRCh38:
- Chr1:235441876-235441878
| B3GALNT2, TBCE | L333del, L446del, L497del | Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235597596
- GRCh38:
- Chr1:235434281
| TBCE | | Encephalopathy, progressive, with amyotrophy and optic atrophy | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235543435
- GRCh38:
- Chr1:235380120
| TBCE | R24H | Encephalopathy, progressive, with amyotrophy and optic atrophy, not provided, Hypoparathyroidism-retardation-dysmorphism syndrome,
Autosomal recessive Kenny-Caffey syndrome, Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:235602156
- GRCh38:
- Chr1:235438841
| TBCE | G397S, G284S, G448S | not provided, Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:235590523
- GRCh38:
- Chr1:235427208
| TBCE | Q177K, Q64K | Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(Apr 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235590521
- GRCh38:
- Chr1:235427206
| TBCE | D63V, D176V | Encephalopathy, progressive, with amyotrophy and optic atrophy | Uncertain significance
(Jul 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235577894
- GRCh38:
- Chr1:235414579
| TBCE | V111G | Encephalopathy, progressive, with amyotrophy and optic atrophy | Likely pathogenic
(Dec 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:235590458
- GRCh38:
- Chr1:235427143
| TBCE | I155N, I42N | not provided | Pathogenic/Likely pathogenic
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:235599883
- GRCh38:
- Chr1:235436568
| TBCE | | TBCE-Related Disorder | Pathogenic
(Sep 22, 2022) | criteria provided, single submitter |