Intellectual disability
Gene: AGPSThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Comment on list classification: Though some relevant phenotypic features have been reported, the relationship with ID is not clear from literature. Patients are more likely to be recognised in context of the skeletal phenotype.
Therefore, suggesting a rating downgrade from Green to Amber at the next major review.Created: 23 Sep 2020, 2:04 p.m. | Last Modified: 23 Sep 2020, 2:04 p.m.
Panel Version: 3.333
To date, five unrelated individuals described with rhizomelic chondrodysplasia punctata due to variants in AGPS, but information regarding cognitive development only reported in three:
- PMID: 21990100 (2012) - Patient 6 (age 4) had severe mental retardation, no speech and smiled to parent's voice; however, authors noted high consanguinity and therefore could not define conclusive genotype-phenotype correlations.
Patient 7 (age 7) smiled responsively at 6 months, and at the time of last examination at 27 months, had no head support, could not roll over or hold objects, and had no speech. No information regarding her subsequent development was provided.
- PMID: 11152660 (2001) - Developmental delay, among other features, was noted in Patient 4.Created: 23 Sep 2020, 1:56 p.m. | Last Modified: 23 Sep 2020, 1:56 p.m.
Panel Version: 3.332
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 3, 600121
Publications
Variants in this gene cause a skeletal dysplasia, intellect typically normal.Created: 27 Jan 2020, 6:01 a.m. | Last Modified: 27 Jan 2020, 6:01 a.m.
Panel Version: 3.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : UncertainCreated: 27 Jul 2017, 5:01 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; GEL_ID_green_20160217; neuro_20160418_strict; Uncertain. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation TrustCreated: 19 Jul 2017, 11:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment on list classification: Confirmed ID gene.Created: 29 Jan 2016, 5:04 p.m.
Tag for-review was removed from gene: AGPS.
Source Expert Review Amber was added to AGPS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: AGPS were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 (RCDP3) to Rhizomelic chondrodysplasia punctata, type 3, 600121
Publications for gene: AGPS were set to 7807941; 11152660
Gene: agps has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: AGPS.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
AGPS was added to Intellectual disabilitypanel. Sources: Expert Review Amber
AGPS was created by ellenmcdonagh