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Intellectual disability

Gene: FRAS1

Amber List (moderate evidence)

FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Causation is clear for Fraser syndrome. Although ID is a reported feature it would be expected to present in a syndromic manner from birth with cryptophthalmos and syndactyly. Therefore the utility in a cohort that includes non-syndromic ID questionable.
Created: 21 Dec 2017, 10:31 a.m.
Comment on list classification: Causation is clear for Fraser syndrome. Although ID is a reported feature it would be expected to present in a syndromic manner from birth with cryptophthalmos and syndactyly. Therefore the utility in a cohort that includes non-syndromic ID questionable.
Created: 21 Dec 2017, 10:31 a.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Confirmed DD gene for Fraser syndrome which includes ID/mental retardation. More than 3 families/cases reported (see publications).
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 1 219000

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
FRASER SYNDROME (FRASS)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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_gilissen_2014_known . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:58 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function. 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 Trust
Created: 19 Jul 2017, 12:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

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.

5 Jan 2018, Gel status: 2

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene FRAS1 was set to ['12766769', '16894541', '17163535']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FRAS1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FRAS1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen