Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Intellectual disability - microarray and sequencing v5.522 FRYL Arina Puzriakova gene: FRYL was added
gene: FRYL was added to Intellectual disability - microarray and sequencing. Sources: Literature
watchlist tags were added to gene: FRYL.
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: FRYL was set to AMBER
Added comment: New association linking this gene to disease which is not yet listed in OMIM or Gene2Phenotype. There are no sequence variants in Decipher and ClinVar shows only a single pathogenic frameshift variant (c.1224del, p.Lys409fs) for FRYL-associated neurodevelopmental disorder, amongst multiple SNVs which are mostly missense VUS or B/LB.

Pan et al., 2024 (PMID: 38479391) reported 14 individuals with heterozygous variant in FRYL who presented with DD/ID, dysmorphic features, and other congenital anomalies in multiple systems. Except for DD/ID which was the only universal feature, observed phenotypes were variable and nonspecific.

Variants were confirmed de novo in all except one individual (duo testing excluded paternal inheritance although it was present at low frequency in gnomAD). Variant types include missense (5), fs/stop-gain (8) and canonical splice (1). Modelling 4/5 patient missense variants using flies showed that only one serves as a severe LoF variant, two others behave as partial LoF variants, and one variant had no functional impact (only variant not confirmed as de novo indicating this is a VUS). Four individuals also had P/LP variants in other genes (SF3B4, DHCR7, SLC6A19, SDHA) which could at least partially explain their phenotypes, and a further four harboured additional VUSs.
Sources: Literature
Intellectual disability - microarray and sequencing v3.1102 SLC6A1 Arina Puzriakova Publications for gene: SLC6A1 were set to 25865495
Intellectual disability - microarray and sequencing v3.1101 SLC6A1 Arina Puzriakova Phenotypes for gene: SLC6A1 were changed from EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES to Myoclonic-atonic epilepsy, OMIM:616421
Intellectual disability - microarray and sequencing v2.468 SLC6A17 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A17.
Intellectual disability - microarray and sequencing v2.468 SLC6A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A1.
Intellectual disability - microarray and sequencing SLC6A19 BRIDGE consortium edited their review of SLC6A19
Intellectual disability - microarray and sequencing SLC6A17 BRIDGE consortium edited their review of SLC6A17
Intellectual disability - microarray and sequencing SLC6A1 BRIDGE consortium edited their review of SLC6A1
Intellectual disability - microarray and sequencing SLC6A19 BRIDGE consortium edited their review of SLC6A19
Intellectual disability - microarray and sequencing SLC6A17 BRIDGE consortium edited their review of SLC6A17
Intellectual disability - microarray and sequencing SLC6A1 BRIDGE consortium edited their review of SLC6A1
Intellectual disability - microarray and sequencing SLC6A19 BRIDGE consortium reviewed SLC6A19
Intellectual disability - microarray and sequencing SLC6A17 BRIDGE consortium reviewed SLC6A17
Intellectual disability - microarray and sequencing SLC6A1 BRIDGE consortium reviewed SLC6A1
Intellectual disability - microarray and sequencing SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability - microarray and sequencing SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability - microarray and sequencing SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability - microarray and sequencing SLC6A19 Sarah Leigh added SLC6A19 to panel
Intellectual disability - microarray and sequencing SLC6A19 Sarah Leigh reviewed SLC6A19