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Intellectual disability

Gene: FILIP1

Green List (high evidence)
FILIP1 (filamin A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000118407
EnsemblGeneIds (GRCh37): ENSG00000118407
OMIM: 607307, Gene2Phenotype
FILIP1 is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

This gene currently has no phenotype listed in OMIM so checked PMID:36344539 to make sure the same gene name is mentioned. It is, so added the gene-checked tag.
Created: 16 Oct 2023, 5:13 p.m. | Last Modified: 16 Oct 2023, 5:13 p.m.
Panel Version: 5.313
Created: 16 Oct 2023, 5:13 p.m.
Last Modified: 16 Oct 2023, 5:13 p.m.
Panel version: 5.313

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
Created: 25 May 2023, 11:41 a.m. | Last Modified: 25 May 2023, 11:41 a.m.
Panel Version: 5.155
PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability.

PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 25 May 2023, 11:27 a.m. | Last Modified: 25 May 2023, 11:40 a.m.
Panel Version: 5.155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 25 May 2023, 11:27 a.m.
Last Modified: 25 May 2023, 11:40 a.m.
Panel version: 5.153

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
OMIM
607307
Clinvar variants
Variants in FILIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: FILIP1.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: FILIP1.

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: FILIP1.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to FILIP1. Source Expert Review Green was added to FILIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 May 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: FILIP1.

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: filip1 has been classified as Amber List (Moderate Evidence).

25 May 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FILIP1 was added gene: FILIP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36344539; 37163662 Phenotypes for gene: FILIP1 were set to intellectual disability, MONDO:0001071 Review for gene: FILIP1 was set to GREEN