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Intellectual disability

Gene: KLF7

Amber List (moderate evidence)

KLF7 (Kruppel like factor 7)
EnsemblGeneIds (GRCh38): ENSG00000118263
EnsemblGeneIds (GRCh37): ENSG00000118263
OMIM: 604865, Gene2Phenotype
KLF7 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - more than 3 unrelated cases presenting the relevant phenotype.
Created: 24 Jul 2020, 12:21 p.m. | Last Modified: 24 Jul 2020, 12:21 p.m.
Panel Version: 3.194
Not associated with phenotype in OMIM or G2P.

Powis et al. (2018) PMID: 29251763 - Heterozygous de novo missense variants were reported in four unrelated individuals. The two females (aged 15 and 16) were both said to have ID; while the two males (aged 2 and 4) had cognitive delay - though ID had not been formally assessed, presumably due to age. Additional features also included motor and speech delay, hypotonia, and neuromuscular symptoms.
Created: 24 Jul 2020, 11:08 a.m. | Last Modified: 24 Jul 2020, 12:19 p.m.
Panel Version: 3.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals with de novo missense variants; animal model data supportive.
Sources: Expert list
Created: 8 Feb 2020, 10:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
Tags
for-review
OMIM
604865
Clinvar variants
Variants in KLF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: klf7 has been classified as Amber List (Moderate Evidence).

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: klf7 has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: KLF7.

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KLF7 was added gene: KLF7 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF7 were set to 29251763 Phenotypes for gene: KLF7 were set to Intellectual disability Review for gene: KLF7 was set to GREEN gene: KLF7 was marked as current diagnostic